| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... |
OMIM:269400 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Glaucoma, Abnormal lens morphology, Phakodonesis, Pigment... |
OMIM:177650 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Glaucoma, Ectopia lentis |
ORPHA:2084 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Glaucoma, Persistent pupillary membrane |
OMIM:620253 |
| Acropectoral Syndrome |
|
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... |
OMIM:605967 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Glaucoma, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anteri... |
OMIM:251750 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Glaucoma, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Microphthalmia, Miosis... |
OMIM:212550 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Chorioretinal coloboma, Sensorineural hearing impairment, Hematuria, Pos... |
ORPHA:1473 |
| Acropectoral Syndrome |
|
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Glaucoma, Microcornea |
OMIM:156700 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Epicanthus, Ptosis, Iris cyst |
OMIM:620086 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Anterior Segment Dysgenesis 3 |
|
Glaucoma, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld a... |
OMIM:601631 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Recurrent otitis media, Cone/cone-rod dystrophy, Microphthalmia, Hypoplastic in... |
OMIM:608940 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Birdshot Chorioretinopathy |
|
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... |
ORPHA:179 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... |
OMIM:120200 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Neovascular Glaucoma |
|
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... |
ORPHA:94058 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal... |
ORPHA:85167 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Wide nasal bridge, Optic atrophy, Cataract, Dental malocclusion, Clinodactyly, Sandal gap, Ectopi... |
OMIM:618727 |
| Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer... |
ORPHA:2345 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... |
OMIM:251270 |
| Trisomy 13 |
|
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Cryptorchidism, Abnormal anti... |
ORPHA:3378 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Norrie Disease |
|
Retinal fold, Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal strom... |
OMIM:310600 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Retinitis Pigmentosa 42 |
|
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... |
OMIM:612943 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Microcornea, Cataract, Broad nasal tip, Depressed nasal bridge, Myopic astigmatism... |
OMIM:152950 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Band keratopathy, Hypoplasia of the iris, Vertigo, Ocular anterior segment... |
OMIM:614195 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... |
OMIM:106210 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Glaucoma, Posterior synechiae of the anterior chamber, Phthisis bulbi, Leu... |
OMIM:221900 |
| Caudal Duplication |
|
Abnormal penis morphology, Myelomeningocele, Renal hypoplasia/aplasia, Spina bifida, Ureteral dup... |
ORPHA:1756 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Broad thumb, Broad hallux, Decreased testicular size, ... |
ORPHA:293967 |
| Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... |
OMIM:204000 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... |
ORPHA:190 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the blad... |
ORPHA:2547 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Donnai-Barrow Syndrome |
|
Low-set ears, Cataract, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Hearing ... |
OMIM:222448 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Multipl... |
ORPHA:66637 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Hearing impairment, Chorioretinal coloboma, Short thumb, Abnormal antihelix morphology,... |
OMIM:274205 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Glaucoma 1, Open Angle, A |
|
Glaucoma, Abnormal iris vasculature |
OMIM:137750 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scolios... |
OMIM:214300 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
| Meckel Syndrome, Type 8 |
|
Narrow chest, Hyperechogenic kidneys, Anophthalmia, Short neck, Microphthalmia, Pericardial effus... |
OMIM:613885 |
| Cofs Syndrome |
|
Wide nasal bridge, Optic atrophy, Cataract, Camptodactyly of finger, Hypogonadism, Micrognathia, ... |
ORPHA:1466 |
| Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
| Neuhauser Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Cupped ear, Hypoplasia of the iris, Megalocornea, Larg... |
OMIM:249310 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Sensorineural hearing impairment, Hy... |
OMIM:206900 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Eye poking, ... |
OMIM:204100 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Miosis, Microphthalmia |
OMIM:156850 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Sensorineural hearing impairment, Abnormal vitreous humor morphology, Reti... |
ORPHA:90654 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... |
OMIM:604229 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Cataract, Exudative vitreoretinopathy, V... |
OMIM:143200 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... |
OMIM:174400 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Microcoria, Congenital |
|
Glaucoma, Miosis, Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Nance-Horan Syndrome |
|
Cataract, Microcornea, Prominent nose, Prominent nasal bridge, Protruding ear, Retinal detachment... |
ORPHA:627 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Hearing impairment, Rod-cone dystrophy, Infertility |
OMIM:300719 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Cataract, Abnormal epiphysis morphology, Vitreoretinopathy, Micrognathia, G... |
ORPHA:250984 |
| Oculofaciocardiodental Syndrome |
|
Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar synostosis, Retinal... |
ORPHA:2712 |
| Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Microphthalmia, Aplasia/Hypoplasia affecting ... |
ORPHA:83461 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Sensorineural hear... |
ORPHA:290 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral valve |
OMIM:100100 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis |
OMIM:602200 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Atypical scarring of skin, Abnormal heart morphology, Abnormal hip bone morphology, Abnormal thor... |
ORPHA:294975 |
| Walker-Warburg Syndrome |
|
Low-set ears, Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Cryptorchidi... |
ORPHA:899 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Posterior subcapsular cataract, Cataract, Deviation of the 2nd finger, Resting tre... |
ORPHA:67036 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... |
OMIM:610202 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Stickler Syndrome, Type V |
|
Cataract, Retinal detachment, Vitreoretinopathy, Sensorineural hearing impairment |
OMIM:614284 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... |
ORPHA:139471 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
| Distal Deletion 6P |
|
Low-set ears, Depressed nasal bridge, Self-injurious behavior, Abnormal epiphysis morphology, Hea... |
ORPHA:96125 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Hearing i... |
ORPHA:1856 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Abnormality of the uterus, Sensorineural hearing impairment, Proteinuria,... |
ORPHA:2143 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Abnormal lower limb bone morphology, Microphthalmia, Abnormal vitreo... |
ORPHA:2788 |
| Kyphomelic Dysplasia |
|
Narrow chest, Micromelia, Micrognathia, Undulate ribs, Bowing of the long bones, Missing ribs, La... |
ORPHA:1801 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Depressed nasal bridge, Band keratopathy, Vitreoretinopathy, Bifid ... |
OMIM:267750 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ureter, Micrognathia, Short neck, Hyperlordosis,... |
ORPHA:2522 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Astigmatism, Retinal dots, Retinal d... |
OMIM:616188 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy |
ORPHA:75858 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Pigmentary retinopathy, Polycystic ovaries, Subcapsular cataract, Abnormality of the ear, Rod-con... |
OMIM:268020 |
| Norrie Disease |
|
Abnormal helix morphology, Uterine rupture, Cryptorchidism, Sensorineural hearing impairment, Abn... |
ORPHA:649 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Diabetes mellitus, Preaxial hand polydactyly |
OMIM:601759 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... |
OMIM:300476 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic di... |
ORPHA:65 |
| Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Stickler Syndrome, Type Ii |
|
Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Sensorineural hearing impairmen... |
OMIM:604841 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Renal hypoplasia/aplasia, Hydronephrosis, Micropenis, Ureteral duplication |
ORPHA:1926 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Macular edema, Hearing impairment, Vitreoretinopathy, Subretinal fluid, Tractional reti... |
ORPHA:891 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Cockayne Syndrome B |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Death in childhood, Se... |
OMIM:133540 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentati... |
OMIM:618845 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Sho... |
OMIM:614524 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retr... |
OMIM:620157 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Cataract, Hearing impairment, Tremor, Optic disc pallor |
OMIM:165300 |
| Bresek Syndrome |
|
Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Decreased testicul... |
ORPHA:85284 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Subcapsular cataract, Retinal degenerati... |
OMIM:600059 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, S... |
OMIM:612674 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin... |
OMIM:617927 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Wagr Syndrome |
|
Cataract, Micrognathia, Hearing abnormality, Aplasia/Hypoplasia of the iris, Cryptorchidism, Disp... |
ORPHA:893 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Depressed nasal bridge, Slender finger, Hemiatrophy of upper limb, Oligosacchariduria, ... |
ORPHA:163649 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly |
OMIM:615983 |
| Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiphysis ... |
ORPHA:90653 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... |
OMIM:604393 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... |
OMIM:615503 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Microcornea, Cataract, Prominent nose, Micrognathia, Retinopathy, Talipes equinova... |
OMIM:616171 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Hearing impairment, Chorioretinal col... |
ORPHA:2092 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly |
OMIM:615988 |
| Glaucoma, Primary Closed-Angle |
|
Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber |
OMIM:618880 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... |
OMIM:616468 |
| Galloway-Mowat Syndrome 1 |
|
Low-set ears, Hand clenching, Joint contracture of the hand, Micrognathia, Talipes equinovarus, D... |
OMIM:251300 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Retinopathy Of Prematurity |
|
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... |
ORPHA:90050 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Achondrogenesis Type 2 |
|
Cataract, Hypoplastic ilia, Hearing impairment, Micromelia, Delayed pubic bone ossification, Abno... |
ORPHA:93296 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract |
ORPHA:39044 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Mandibular prognathia, Delayed eruption of permanent teeth, Rieger anomaly, Ne... |
ORPHA:521445 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta... |
OMIM:617895 |
| Galactosialidosis |
|
Cherry red spot of the macula, Hearing impairment, Corneal opacity |
ORPHA:351 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... |
OMIM:173800 |
| Oculoauricular Syndrome |
|
Low-set ears, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod ... |
OMIM:612109 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Death in childhood, Coloboma, Retinal detachment, Corneal opacity, Microphthalmia |
OMIM:613153 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... |
OMIM:122600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Abnormality of the ureter, Micrognathia, Renal hypoplasia/aplasia, Delayed erupti... |
ORPHA:819 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Cat-Eye Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Microphthal... |
ORPHA:195 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morphology, Abnormal r... |
ORPHA:93267 |
| Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Increased cup-to-disc ratio, Ocular hypertension, Megalocornea |
OMIM:617272 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... |
ORPHA:860 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic ilia, Pectus carinatum, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pub... |
OMIM:613330 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria... |
OMIM:120330 |
| Pierson Syndrome |
|
Cataract, Nephrotic syndrome, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypopl... |
OMIM:609049 |
| Traboulsi Syndrome |
|
Arachnodactyly, Microphthalmia, Wide nose, Cataract, Homocystinuria, Anterior synechiae of the an... |
OMIM:601552 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia |
ORPHA:99000 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Low-set ears, Abnormal antihelix morphology, Retinal detachment,... |
ORPHA:85194 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Renal hypoplasia, Toe syndactyly, Cupped ear, Hearing impairment, Atresia of the e... |
ORPHA:264200 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Micromelia, Advanced tarsal ossification, Micrognath... |
OMIM:215045 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Postaxial ... |
OMIM:615633 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Hearing impairment, Clinodactyly, Coloboma, Brachydactyly, Ocular anterior segmen... |
OMIM:610023 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Anophthalmia, 2-3 toe sy... |
OMIM:615877 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hearing impairment, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hor... |
OMIM:101800 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... |
OMIM:186350 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
| Persistent Hyperplastic Primary Vitreous |
|
Angle closure glaucoma, Cataract, Microcornea, Phthisis bulbi, Leukocoria, Shallow anterior chamb... |
ORPHA:91495 |
| Knobloch Syndrome |
|
Bifid ureter, Patent ductus arteriosus, Vesicoureteral reflux, Occipital encephalocele |
ORPHA:1571 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum |
OMIM:618155 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Keratoconus, Abnormal helix morphology, Hearing impairment, Optic disc hypoplasia,... |
ORPHA:401777 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fu... |
ORPHA:1436 |
| Joint Laxity, Short Stature, And Myopia |
|
Hearing impairment, Chorioretinal coloboma, Talipes equinovarus, Retinal detachment, Iris coloboma |
OMIM:617662 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... |
ORPHA:2973 |
| Stickler Syndrome, Type Iv |
|
Epiphyseal dysplasia, Cataract, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum,... |
OMIM:614134 |
| Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... |
ORPHA:209956 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long penis, Micrognathia, Vertebral segmentation defect, Rib fus... |
ORPHA:1988 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Macular coloboma, Retinal dots, ... |
OMIM:608553 |
| Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Micrognathia, Astigmatism, Metatarsus va... |
ORPHA:2479 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus |
OMIM:615996 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Cataract, Hearing impairment, Abnormal macular morphology, Chorioretinal atrophy, ... |
ORPHA:414 |
| Microphthalmia, Lenz Type |
|
Hearing impairment, Chorioretinal coloboma, Finger syndactyly, Cryptorchidism, Renal hypoplasia/a... |
ORPHA:568 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cardiomyopathy, Cervical v... |
OMIM:606842 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... |
OMIM:613835 |
| Micro Syndrome |
|
Wide nasal bridge, Optic atrophy, Microcornea, Cataract, Abnormal localization of kidney, Retinal... |
ORPHA:2510 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Death in infancy, Neonatal death, Microphthalmia, Optic disc pallor, Ec... |
OMIM:613730 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomel... |
ORPHA:1354 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Vesicoureter... |
OMIM:609053 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Ureteral duplication, Hypospadias, Patent ductus arteriosus |
OMIM:617516 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus |
OMIM:617661 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Micromelia, Optic disc coloboma, Hypoplasia of the iris, Male pseudohermaphroditism, Brachydactyl... |
OMIM:600092 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Retinal detachment,... |
ORPHA:370959 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... |
OMIM:118100 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Optic atrophy, Cataract, Depressed nasal bridge, Hearing impairment, Mic... |
OMIM:619833 |
| Short Syndrome |
|
Wide nasal bridge, Abnormal mandible morphology, Hypoplasia of the iris, Megalocornea, Abnormal d... |
ORPHA:3163 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Duane Retraction Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Talip... |
ORPHA:233 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal cyst, Renal dysplasia |
OMIM:236500 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... |
OMIM:265400 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Hyp... |
ORPHA:1422 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... |
OMIM:614292 |
| Exudative Vitreoretinopathy 4 |
|
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... |
OMIM:601813 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... |
OMIM:175700 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Microphthalmia/Coloboma 9 |
|
Low-set ears, Microcornea, Macrotia, Retinal detachment, Ocular anterior segment dysgenesis, Micr... |
OMIM:615145 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Warburg Micro Syndrome 1 |
|
Low-set ears, Optic atrophy, Microcornea, Wide nasal bridge, External genital hypoplasia, Microgn... |
OMIM:600118 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... |
OMIM:187601 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation |
OMIM:617107 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Micrognathia, Anophthalmia, Ventricular septal defect, Neonatal death, M... |
OMIM:615524 |
| Dubowitz Syndrome |
|
Low-set ears, Iris coloboma, Wide nasal bridge, Carious teeth, Broad nasal tip, Delayed eruption ... |
OMIM:223370 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Coloboma, Micro... |
OMIM:610125 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potent... |
OMIM:109120 |
| X-Linked Intellectual Disability, Siderius Type |
|
Decreased testicular size, Cryptorchidism, Large hands, Preaxial hand polydactyly |
ORPHA:85287 |
| Brittle Cornea Syndrome |
|
Conductive hearing impairment, Abnormal epiphysis morphology, Corneal scarring, Sensorineural hea... |
ORPHA:90354 |
| Vitreoretinochoroidopathy |
|
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... |
OMIM:193220 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Microphthalmia, Isolated 6 |
|
Retinal fold, Microcornea, Ocular hypertension, Microphthalmia |
OMIM:613517 |
| Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... |
OMIM:611040 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Clinodactyly, Astigmatism, Abnormality of retinal pigmentation, Protruding ear, Arac... |
OMIM:108145 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Retinitis Pigmentosa |
|
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Conductive hearing impairment, Hypogo... |
ORPHA:791 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Cervical ribs, Tetralogy of Fallot, Horseshoe kidney, Fibular ap... |
ORPHA:3320 |
| Knobloch Syndrome 2 |
|
Vitreoretinopathy, Anterior cortical cataract, Micrognathia, Vitreous floaters, Retinal detachmen... |
OMIM:618458 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Hydroureter |
OMIM:222300 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Zellweger Syndrome |
|
Wide nasal bridge, Optic atrophy, Cataract, Multicystic kidney dysplasia, Clitoral hypertrophy, D... |
ORPHA:912 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Anophthal... |
ORPHA:564 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Low-set ears, Optic atrophy, Cataract, Peters anomaly, Atresia of the external auditory canal, Me... |
OMIM:236670 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Anophthalmia, Ventricular septal defect, Hemiver... |
ORPHA:77298 |
| Odontochondrodysplasia 1 |
|
Platyspondyly, Genu recurvatum, Pectus carinatum, Nephronophthisis, Biconvex vertebral bodies, Na... |
OMIM:184260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Cataract, Peters anomaly, Retrognathia, Death in childhood, Death in infancy, Retin... |
OMIM:614643 |
| Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality ... |
OMIM:182290 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... |
OMIM:309620 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Micromelia, Short femoral neck, Central vertebral... |
OMIM:602557 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Hearing impairment, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma |
OMIM:120433 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Anterior hypopituitarism, Micrognathia, S... |
OMIM:241800 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
| Optic Atrophy 9 |
|
Optic atrophy, Optic disc pallor |
OMIM:616289 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Cataract, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Peripheral ax... |
ORPHA:496790 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Cataract, Depressed nasal bridge, Enlarged metaphyses, Dumbbell-... |
ORPHA:485 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... |
OMIM:191800 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Male hypogonadism, Hearing impairment, Hypoplasi... |
ORPHA:90321 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy |
OMIM:601389 |
| Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha... |
OMIM:613310 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Omphalocele |
ORPHA:85174 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... |
OMIM:618195 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
| Spermatogenic Failure 12 |
|
Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Clitoral hypertrophy, IgA deposition in the glomerulus, R... |
ORPHA:63 |
| Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2 |
|
Optic atrophy |
OMIM:620569 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Cataract, Depressed nasal bridge, Rhizomelia, Conductive hearing... |
OMIM:156550 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
| Short Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Underd... |
OMIM:269880 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis, Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, B... |
OMIM:615630 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Sensorineu... |
OMIM:602482 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys |
OMIM:617914 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... |
OMIM:277300 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Dystonia, Opacification of the corneal stroma |
OMIM:252650 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Low-set ears, Supernumerary nipple, Prominent crus of helix, Genu valgum, Cryptorchidism, Hip con... |
OMIM:619194 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... |
OMIM:618469 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Microcornea, Increased axial length of the globe, Optic disc coloboma, Chorioretinal coloboma, Ma... |
OMIM:602499 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Micrognathia, Decrea... |
OMIM:616897 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Prieto Syndrome |
|
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Cryptorchidism, Talipes equinovarus, ... |
OMIM:309610 |
| X-Linked Intellectual Disability, Najm Type |
|
Wide nasal bridge, Optic atrophy, Cataract, Chorioretinal coloboma, Micrognathia, Sensorineural h... |
ORPHA:163937 |
| Cone-Rod Dystrophy 16 |
|
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... |
OMIM:614500 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions... |
OMIM:250420 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Unilateral ptosis, Hyperactivity |
OMIM:300928 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Nasal congestion, Macular atrophy, Rod-cone dystrophy, Reduced sp... |
OMIM:615434 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occulta, Renal malrotati... |
ORPHA:500095 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Supernumerary nipple, Abnormal sternum morphology, Broad ribs, Congenita... |
ORPHA:2519 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... |
ORPHA:1617 |
| Rabin-Pappas Syndrome |
|
Wide nasal bridge, Cataract, Broad nasal tip, Conductive hearing impairment, Retrognathia, Microg... |
OMIM:620155 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Small hand, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Mi... |
ORPHA:2714 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tars... |
OMIM:269250 |
| Eales Disease |
|
Epistaxis, Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal... |
ORPHA:40923 |
| Cloacal Exstrophy |
|
Hydroureter, Ureterocele, Horseshoe kidney, Myelomeningocele, Vesicoureteral reflux, Ureteropelvi... |
ORPHA:93929 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Attenuation of r... |
OMIM:300578 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth |
OMIM:600972 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... |
OMIM:612572 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Aplasia... |
ORPHA:782 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Dentinogenesis imperfecta, Abnormal cornea morphology, Congenital hip dislocation, H... |
OMIM:229200 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Thoracic platyspondyly, Increased intervertebral space, Short ribs, Beaking of vert... |
OMIM:618961 |
| Rere-Related Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Iris coloboma, Choanal atresia, Peters anomaly, Hearing i... |
ORPHA:494344 |
| Stromme Syndrome |
|
Low-set ears, Cataract, Microcornea, Wide nasal bridge, Peters anomaly, Retinal vascular tortuosi... |
OMIM:243605 |
| Frontometaphyseal Dysplasia 1 |
|
Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral valve prolapse, Limited elbow m... |
OMIM:305620 |
| Schwannomatosis, Vestibular |
|
Cataract, Posterior subcapsular cataract, Neurofibroma, Bilateral vestibular schwannoma, Hearing ... |
OMIM:101000 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:616854 |
| Diaphanospondylodysostosis |
|
Unossified sacrum, Tracheomalacia, Thoracic hypoplasia, Nephrogenic rest, Nephroblastomatosis, Ho... |
OMIM:608022 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Glaucoma, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... |
OMIM:122000 |
| Gapo Syndrome |
|
Low-set ears, Optic atrophy, Keratoconus, Choanal atresia, Depressed nasal bridge, Hearing impair... |
ORPHA:2067 |
| Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... |
OMIM:180105 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... |
ORPHA:2839 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Bilateral vestibular schwannoma, Abnormal optic nerve morphology,... |
ORPHA:637 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Short toe, Prominent nasal bridge, Astigmatism, Cryptorchidism, Hydron... |
ORPHA:464311 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati... |
ORPHA:171844 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Cataract, Postaxial foot polydactyly, Polydipsia, Attenuation of retinal ... |
OMIM:615986 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma... |
ORPHA:281090 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Micrognathia, Cryptorchidism, Camptodactyly, Rocker bottom foot |
OMIM:618393 |
| Marshall Syndrome |
|
Low-set ears, Radial bowing, Recurrent otitis media, Micrognathia, Sensorineural hearing impairme... |
OMIM:154780 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Hearing impairment, Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupi... |
ORPHA:101082 |
| Iridocorneal Endothelial Syndrome |
|
Glaucoma, Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, A... |
ORPHA:64734 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Short thorax, Abnormal odontoid process morphology, Bell-shaped thorax, Situs in... |
OMIM:613686 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Rachitic rosary, Phosphoethanolamin... |
OMIM:241500 |
| Stickler Syndrome, Type I |
|
Abnormal femoral epiphysis morphology, Cataract, Depressed nasal bridge, Conductive hearing impai... |
OMIM:108300 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang... |
OMIM:251255 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Delayed eruption of teeth, Sensorineural hearing impairment, ... |
ORPHA:3214 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Cataract |
OMIM:620312 |
| Duane-Radial Ray Syndrome |
|
Sensorineural hearing impairment, Aplasia of metacarpal bones, Slit-like opening of the exterior ... |
OMIM:607323 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... |
ORPHA:363741 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
| Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... |
OMIM:617866 |
| Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... |
ORPHA:364055 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Ectopia pupillae, Recurrent otitis media, Long hallux, Genu valgum,... |
ORPHA:261552 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Slender finger, Microretrognathia, Functional abnormality of the bladder, Hearing impairment, Hor... |
ORPHA:2953 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Carious teeth, Peripheral axonal neuropathy, Microphthalmia, Optic disc pallor, Corn... |
ORPHA:90324 |
| Pierpont Syndrome |
|
Abnormal peripheral nervous system morphology, Microcornea, Broad nasal tip, Hearing impairment, ... |
OMIM:602342 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Bilateral Acute Depigmentation Of The Iris |
|
Recurrent upper respiratory tract infections, Abnormal corneal endothelium morphology, Pigment de... |
ORPHA:69736 |
| Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... |
OMIM:602772 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Myelomeningocele, Hydronephrosis, Spina bif... |
ORPHA:2437 |
| Isolated Ectopia Lentis |
|
Cataract, Mandibular prognathia, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Cryptorchidism, Hydronephrosis, Microphthalmia, Sclerocor... |
OMIM:613001 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Epicanthus, Aggressive behavior, ... |
OMIM:309548 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, Patent ductus arter... |
OMIM:615398 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Warburg Micro Syndrome 2 |
|
Optic atrophy, Microcornea, Cataract, Small scrotum, Undetectable visual evoked potentials, Overl... |
OMIM:614225 |
| Three M Syndrome 1 |
|
Short 5th finger, Joint dislocation, Delayed skeletal maturation, Increased vertebral height, Sho... |
OMIM:273750 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... |
ORPHA:1797 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Trisomy 12P |
|
Low-set ears, Wide nasal bridge, Abnormality of the urinary system, Supernumerary nipple, Microgn... |
ORPHA:1699 |
| Temtamy Syndrome |
|
Low-set ears, Short toe, Chorioretinal coloboma, Micrognathia, Brachydactyly, Convex nasal ridge,... |
ORPHA:1777 |
| Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication |
OMIM:610733 |
| Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Rhizomelia, Joint dislocation, Micromelia, Hypertrophic cardiomyopathy, Bell-shaped... |
ORPHA:1842 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Absent testis |
OMIM:613094 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Absent fifth metatarsal, Atrial septal defect, Patellar dislocatio... |
OMIM:620662 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Microcornea, Corneal opacity |
ORPHA:2432 |
| Gms Syndrome |
|
Low-set ears, Depressed nasal bridge, Rieger anomaly |
ORPHA:2090 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Irregular tarsal ossification, Subepithelial corneal opacities, Abnor... |
OMIM:221800 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Wagro Syndrome |
|
Low-set ears, Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridi... |
OMIM:612469 |
| Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Broad nasal tip, Posterior subcapsular cataract, Chorioretinal degeneration, Posteri... |
OMIM:615458 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Cataract, Joint contracture of the hand, Abnormality of the urinary system, Conduct... |
OMIM:244300 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu... |
OMIM:175780 |
| Carpenter Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognat... |
OMIM:201000 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Meckel Syndrome 13 |
|
Flexion contracture, Micrognathia, Polycystic kidney dysplasia |
OMIM:617562 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... |
OMIM:613581 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Encephalocele |
OMIM:614465 |
| Aniridia 2 |
|
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract, Hearing impairment, Tremor |
OMIM:312910 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Micropenis, Renal hypoplasia, Spina bifida |
OMIM:620439 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly, Rod-cone dystrophy,... |
OMIM:615995 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Umbilical hernia, Micropenis, Hypospadias, Patent ductus arteri... |
ORPHA:171839 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Nephroblastoma, Pectus excavatum, Kyphosis, Sacral dimple, Enlarged kidney |
OMIM:618272 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Micrognathia, Peripheral axonal neuropathy, Developmental cataract, Corneal opacit... |
OMIM:617183 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Dilatation of the renal pelvis, Hearing impairment, Short 5th toe, Cryptorchidism, Chordee, Retin... |
ORPHA:268261 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Epicanthus, Aggressive behavior, ... |
ORPHA:100973 |
| Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... |
OMIM:600132 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bell-shaped thorax,... |
ORPHA:56304 |
| Vogt-Koyanagi-Harada Disease |
|
Cataract, Retinal detachment, Sensorineural hearing impairment |
ORPHA:3437 |
| Achondrogenesis, Type Ii |
|
Abnormally large globe, Microretrognathia, Absent vertebral body mineralization, Horizontal ribs,... |
OMIM:200610 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication, Patent ductus arteriosus, Umbilical hernia |
OMIM:104350 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia |
ORPHA:2241 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... |
OMIM:614091 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Rhizomelia, Thoracic hypoplasia, Severe limb sho... |
OMIM:151210 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Waardenburg Syndrome, Type 2A |
|
Wide nasal bridge, Underdeveloped nasal alae, Sensorineural hearing impairment, Heterochromia iri... |
OMIM:193510 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Retinitis Pigmentosa 71 |
|
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... |
OMIM:616394 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Recurrent otitis media, Underdeveloped tragus, Micrognathia, Iris coloboma, Syndact... |
OMIM:620654 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Cryptorchidism, Arachnodactyly, Anterior pituitary hypoplasia, Optic disc pallor,... |
ORPHA:464306 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Depressed nasal bridge, Broad distal phalanx of finger, Broad nasal tip, Inappropriate laughter, ... |
ORPHA:363686 |
| Proteus-Like Syndrome |
|
Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyroid gland, Anteve... |
ORPHA:2969 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma |
ORPHA:2732 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Retrognathia, Hypogonadism, Microphthalmia |
ORPHA:2528 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Hypoplasia of the antihelix, Hearing impairment, Chorioretinal coloboma, Short thumb, A... |
ORPHA:2489 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Anosmia, Hypopigmentation of the fundus, Ocular albinism, Hypoplasia of th... |
OMIM:611584 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Otodental Syndrome |
|
Cataract, Microcornea, Carious teeth, Abnormal dental pulp morphology, Progressive sensorineural ... |
ORPHA:2791 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux |
OMIM:613735 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Optic atrophy, Precocious puberty in females, Self-injurious ... |
ORPHA:72 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... |
OMIM:609052 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Duplication of renal pelvis |
ORPHA:457212 |
| Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis, Umbilical hernia |
ORPHA:2604 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Anteverted ears, Iris coloboma |
OMIM:300915 |
| Intermediate Uveitis |
|
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior ... |
ORPHA:279914 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... |
ORPHA:324604 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Short neck, Anterior ... |
OMIM:228520 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Microspherophakia, Ectopia lentis, Arachnodactyly, Retinal detachment, Shallow anterior chamber |
OMIM:129600 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... |
OMIM:193230 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Cataract, Pigmentary retinopathy, Clitoral hypertrophy, Abnormal helix morphology,... |
OMIM:214110 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Prominent fingerti... |
OMIM:618494 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... |
OMIM:301056 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Small hand, Hearing impairment, Bruxism, Genu valgum, Attached earlobe, Talipes equi... |
ORPHA:289522 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Optic atrophy, Depression, Sensory axonal neuropathy, Bilateral ptosis, Dysphagia |
ORPHA:329314 |
| Foveal Hypoplasia 2 |
|
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... |
OMIM:609218 |
| Distal Duplication 6P |
|
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system |
ORPHA:1745 |
| Microphthalmia, Syndromic 2 |
|
Hand clenching, Cryptorchidism, Anophthalmia, Sensorineural hearing impairment, Contracture of th... |
OMIM:300166 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Glaucoma, Buphthalmos, Microphthalmia |
OMIM:616538 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor |
OMIM:618511 |
| Fetal Akinesia Syndrome, X-Linked |
|
Telecanthus, Blepharophimosis, Narrow palpebral fissure, Stillbirth |
OMIM:300073 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy, Microphthalmia |
OMIM:601794 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
| Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
| Sturge-Weber Syndrome |
|
Optic atrophy, Hearing abnormality, Abnormal choroid morphology, Heterochromia iridis, Conjunctiv... |
ORPHA:3205 |
| Cockayne Syndrome |
|
Lentiglobus, Carious teeth, Cryptorchidism, Action tremor, Delayed eruption of primary teeth, Per... |
ORPHA:191 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Umbilical hernia |
ORPHA:1035 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Butterfly vertebra... |
OMIM:619227 |
| Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Talipes equinov... |
OMIM:194190 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Cataract, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Rhiz... |
OMIM:222765 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Elbow flexion contracture, Cryptorchidism, Hip contr... |
ORPHA:1145 |
| Insulin-Like Growth Factor I, Resistance To |
|
Low-set ears, Wide nasal bridge, Small hand, Retrognathia, Clinodactyly, Short finger, Sandal gap... |
OMIM:270450 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Omphalocele, Postaxial hand polydactyly, Mi... |
OMIM:603194 |
| Mowat-Wilson Syndrome |
|
Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Recurrent otitis media, Cryptorch... |
OMIM:235730 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism, Cataract, Sensorineural hearing impairment |
ORPHA:2815 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, ... |
OMIM:616549 |
| Sympathetic Ophthalmia |
|
Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an... |
ORPHA:79098 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Buphthalmos |
ORPHA:370997 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias |
ORPHA:96169 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Hearing impairment, Megalocornea, Subluxation of the small joints of the hand, Micr... |
ORPHA:536471 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Short toe, Delayed skeletal maturation, Short 5th metacarpal, 11 pairs of ribs, Spond... |
OMIM:617877 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Short nec... |
ORPHA:508498 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Phacoanaphylactic Uveitis |
|
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... |
ORPHA:209959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Glaucoma, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane |
OMIM:613150 |
| 7Q11.23 Microduplication Syndrome |
|
Hearing impairment, Abnormal earlobe morphology, Micrognathia, Cryptorchidism, Abnormal optic dis... |
ORPHA:96121 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Microcornea, Cataract, Small scrotum, Decreased testicular size, Micrognathia, Mic... |
OMIM:614222 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral ... |
OMIM:608836 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Bladder trabeculation, Ureteral ... |
OMIM:614080 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Ectopic kidney, Renal agenesis |
OMIM:212780 |
| Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Horseshoe kidney, Micrognathia, Abnormal mitral valve morpho... |
ORPHA:1724 |
| Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... |
OMIM:616469 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Depressed nasal bridge, Abnormal auditory evoked potentials, Irregular epiphyses, Atten... |
OMIM:619260 |
| Marshall Syndrome |
|
Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Depressed nasal bridge, Ectopia lentis, V... |
ORPHA:560 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Sub-RPE deposits, Chorioretinal ... |
OMIM:605670 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Cataract, Depressed nasal bridge, Broad thumb, Anteverted nares, Abnormality of re... |
ORPHA:585 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... |
OMIM:613810 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Depression, Optic atrophy |
OMIM:614296 |
| Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... |
OMIM:617304 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Micrognathia, ... |
OMIM:214100 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
| Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys... |
ORPHA:324416 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microcornea, Cataract, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving ... |
ORPHA:3301 |
| Hyperlysinemia, Type I |
|
Hyperlysinuria, Ectopia lentis, Cystinuria, Hyperactivity, Ornithinuria, Homocitrullinuria, Argin... |
OMIM:238700 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... |
ORPHA:1937 |
| Emanuel Syndrome |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Broad jaw, Congenital hip dislocation,... |
ORPHA:96170 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Patent ductus arteriosus after premature birth, Hydronep... |
OMIM:618460 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Patent ductus arteriosus |
ORPHA:251046 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Unilateral renal agenesis, Choanal atresia, Duplication of renal pelvis, O... |
ORPHA:141099 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Finger joint contracture, Micrognathia, Abnormality of peripheral nerve co... |
ORPHA:48431 |
| Emanuel Syndrome |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Broad jaw, Congenital hip dislocation,... |
OMIM:609029 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Neonatal death, Short neck,... |
OMIM:108720 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Prominent nose, Micrognathia, Epiphyseal stippling, Death in infancy |
OMIM:614882 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... |
ORPHA:254534 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F... |
OMIM:614170 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Narrow chest, Micromelia, Delayed skeletal maturation, Dysplasti... |
OMIM:613320 |
| Seckel Syndrome 4 |
|
Steep acetabular roof, 11 pairs of ribs |
OMIM:613676 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... |
OMIM:618173 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... |
ORPHA:67042 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Hypogonadism, Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly |
OMIM:615984 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Gonadal dysgenesis, Hypogonadism,... |
ORPHA:3306 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Abnormal metacarpal mo... |
ORPHA:2370 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... |
OMIM:613630 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Branchial cyst, Renal agenesis |
OMIM:615583 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
| Temtamy Syndrome |
|
Low-set ears, Hip dislocation, Ectopia lentis, Chorioretinal coloboma, Micrognathia, Self-mutilat... |
OMIM:218340 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal... |
ORPHA:363417 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal... |
OMIM:300424 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... |
OMIM:217300 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla,... |
OMIM:180500 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... |
ORPHA:138 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
ORPHA:464288 |
| Immunodeficiency 10 |
|
Recurrent urinary tract infections, Recurrent otitis media, Hypoplasia of the iris, Amelogenesis ... |
OMIM:612783 |
| Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... |
OMIM:613983 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Pierpont Syndrome |
|
Microcornea, Hearing impairment, Prominent fingertip pads, Short toe, Short finger, Excessive wri... |
ORPHA:487825 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormality of macular pigmentation, Progressive hearing impairment, Hypog... |
ORPHA:97229 |
| Sialidosis Type 2 |
|
Nephropathy, Hearing impairment, Abnormal macular morphology, Tremor, Corneal opacity |
ORPHA:87876 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... |
OMIM:619902 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... |
OMIM:610256 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
| Incontinentia Pigmenti |
|
Cataract, Keratitis, Delayed eruption of teeth, Finger syndactyly, Supernumerary nipple, Abnormal... |
ORPHA:464 |
| Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Patent ductus arteriosus |
ORPHA:261344 |
| Fibular Hemimelia |
|
Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Hearing impairment, Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Renal insufficiency, Uretero... |
ORPHA:107 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Hearing impairment, Hypoplasia of the primary teeth, Cryptorchidism, Anophthal... |
ORPHA:90322 |
| Tietz Albinism-Deafness Syndrome |
|
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Blue irides |
OMIM:103500 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies |
OMIM:307500 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias |
OMIM:231060 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Microcornea, Small scrotum, Decreased motor nerve conduction velocity, Decreased t... |
OMIM:615663 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Hearing impairment, Finger syndactyly, Micrognathi... |
ORPHA:84 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... |
OMIM:312700 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Abnormal thorax morphology, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy |
OMIM:204200 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se... |
OMIM:113000 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Duplication involving bones of the feet, Progressive cataract, Optic nerv... |
OMIM:246000 |
| Winchester Syndrome |
|
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy |
OMIM:617270 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Failure to thrive, Motor stereotypy, Aggressive behavior, Hyperactivity, Posteriorl... |
OMIM:609425 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... |
OMIM:187600 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Cataract, Nephronophthisis, Cone-shaped epiphysis, Stage 5 chronic kidney... |
ORPHA:3156 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Shoulder girdle muscle weakness, Sensorineural hearing impairment, ... |
OMIM:158900 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Postaxial polydactyly, ... |
OMIM:618142 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... |
ORPHA:2036 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Hearing impairment, Camptodactyly of finger, Prominent nose, Micrognathi... |
OMIM:610756 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Short... |
OMIM:617159 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Alstrom Syndrome |
|
Irregular menstruation, Nephritis, Pigmentary retinopathy, Progressive sensorineural hearing impa... |
OMIM:203800 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Cataract, Low-set ears, Wide na... |
OMIM:220500 |
| Congenital Hydrocephalus |
|
Optic atrophy, Iris coloboma, Bulbous nose, Sensorineural hearing impairment, Macular hypoplasia,... |
ORPHA:2185 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Short toe, Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidi... |
ORPHA:3085 |
| Mmep Syndrome |
|
Triphalangeal thumb, Ventricular septal defect, Split foot, Microphthalmia |
ORPHA:3434 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Cone-shaped epiphy... |
OMIM:208500 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Depressed nasal bridge, Abnormality of the urinary system, Urete... |
ORPHA:2719 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat... |
OMIM:611131 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Clitoral hypertrophy, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Anophthalmia... |
ORPHA:2556 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Cri-Du-Chat Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Overfriendliness, Abnormality of the kidney, Mo... |
OMIM:123450 |
| Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
| Wilson Disease |
|
Aminoaciduria, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Hand tremor, Decreased nerv... |
OMIM:277900 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... |
ORPHA:280921 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia |
OMIM:276950 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... |
OMIM:620076 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Acalvaria |
|
Spina bifida, Omphalocele, Postaxial hand polydactyly |
ORPHA:945 |
| White-Sutton Syndrome |
|
Low-set ears, Abnormality of the outer ear, Broad thumb, Micrognathia, Overfriendliness, Sensorin... |
OMIM:616364 |
| Poland Syndrome |
|
Small hand, Ureterocele, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/aplasia, Aplasia/Hyp... |
ORPHA:2911 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Vacterl With Hydrocephalus |
|
Abnormality of the outer ear, Microcornea, Microtia, third degree, Renal agenesis, Abnormal optic... |
ORPHA:3412 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Dental malocclusion, Underdeveloped nasal alae, Attenuation of retinal blood vessels, A... |
OMIM:616108 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cataract, Unilateral renal agenesis, Renal hypoplasia, Broad nasal tip, Clinodactyly, Sensory axo... |
OMIM:616541 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked potentials, Optic ... |
OMIM:617523 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Muscular ventricular septal defect, Bilateral single transverse palmar creases, Per... |
OMIM:618804 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
| Adams-Oliver Syndrome 2 |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Bulbous nose, Micrognathia, Single transvers... |
OMIM:614219 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Cryptorchidism, Fibular hypopla... |
ORPHA:3144 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Low-set ears, Cataract, Pigmentary retinopathy, Wide nasal bridge, Underdeveloped nasal alae, Mic... |
OMIM:614230 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Cupped ear, Ectopia pupillae, Decreased re... |
OMIM:618223 |
| Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... |
OMIM:180860 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the maxilla, Ulnar deviation of finger, Abnormal optic nerve morphology, Megalocorn... |
ORPHA:1101 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Cataract, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment... |
OMIM:136760 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Cataract, Retinal detachment, Microphthalmia, Retinal dysplasia, Exaggerated start... |
OMIM:253800 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Depressed nasal bridge, Unilateral renal agenesis, Aniridia, Anteverted nares, Micrognathia, Corn... |
ORPHA:1064 |
| Greenberg Dysplasia |
|
Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Micrognathia, Ba... |
OMIM:215140 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... |
OMIM:613154 |
| Cree Impaired Intellectual Development Syndrome |
|
Bifid scrotum, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of t... |
OMIM:606851 |
| Transient Neonatal Diabetes Mellitus |
|
Hearing impairment, Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Trans... |
ORPHA:99886 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... |
OMIM:263520 |
| Erythrokeratodermia Variabilis |
|
Cataract, Hearing impairment, Patchy palmoplantar hyperkeratosis, Protruding ear, Corneal opacity... |
ORPHA:317 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Carpenter Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop... |
ORPHA:65759 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Narrow chest, Micromelia, Broad long bones, Micrognathia, Short ri... |
OMIM:224400 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of... |
OMIM:300863 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Anoph... |
OMIM:305600 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Optic atrophy, Cataract, Hearing impairment, Cherry red spot of the macula, Polydac... |
ORPHA:93400 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
| Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Splenomegaly, Flaring of rib cage, Hepatom... |
OMIM:612852 |
| Spondyloocular Syndrome |
|
Low-set ears, Cataract, Posterior subcapsular cataract, Overlapping toe, Sensorineural hearing im... |
OMIM:605822 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... |
ORPHA:2021 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Micrognathia, Displacement of th... |
ORPHA:1556 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... |
ORPHA:411527 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Death in infancy, EEG abnormality, Developmental cataract, Corneal opacity, Micro... |
OMIM:618815 |
| Sialidosis Type 1 |
|
Aminoaciduria, Cataract, Wide nasal bridge, Urinary excretion of sialylated oligosaccharides, Che... |
ORPHA:812 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extension a... |
OMIM:244600 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Narrow chest, Micromelia, Broad long bones, Clubbing of fingers, Micrognathia, ... |
ORPHA:1865 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... |
ORPHA:98977 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... |
OMIM:220210 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Depression, Violent behavior, Retinopathy, Emotional lability, Irritability, Compu... |
ORPHA:216873 |
| Microphthalmia, Syndromic 6 |
|
Low-set ears, Small scrotum, Toe syndactyly, Hearing impairment, Finger syndactyly, Thumb contrac... |
OMIM:607932 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Broad thumb, Micrognathia, EEG abnormality, Vaginal hernia, Convex nasal ridge, Optic d... |
ORPHA:3173 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Anteverted nares, Corneal opacity |
ORPHA:1532 |
| Joubert Syndrome 15 |
|
Micropenis, Ambiguous genitalia, Preaxial polydactyly |
OMIM:614464 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
| 3Q29 Microduplication Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Toe syndactyly, Hearing impairment, Sandal gap, Anirid... |
ORPHA:251038 |
| Cerebrooculonasal Syndrome |
|
Low-set ears, Iris coloboma, Conductive hearing impairment, Hypoplastic male external genitalia, ... |
OMIM:605627 |
| Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Wrist swelling, Transient hearing imp... |
ORPHA:448237 |
| Baraitser-Winter Syndrome 1 |
|
Low-set ears, Wide nasal bridge, Retrognathia, Chorioretinal coloboma, Anteverted nares, Cryptorc... |
OMIM:243310 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Depressed nasal bridge, Elevated urina... |
OMIM:614105 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Lissencephaly 8 |
|
Microphthalmia, Optic atrophy, Talipes equinovarus, Cataract |
OMIM:617255 |
| Neonatal Adrenoleukodystrophy |
|
Wide nasal bridge, Optic atrophy, Cataract, Low-set, posteriorly rotated ears, Anteverted nares, ... |
ORPHA:44 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Glaucoma, Buphthalmos, Developmental glaucoma |
ORPHA:99956 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Delayed eruption of teeth, Dislocation of the femoral head, Astigmati... |
OMIM:619797 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract, Posterior subcapsular cataract, Retinal pigment epithelial mottling, Attenuatio... |
OMIM:617547 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Marfan Syndrome |
|
Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Retrognathia, H... |
OMIM:154700 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Cardiac rhabdo... |
OMIM:109400 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Fibular bowing, Micrognathia, Cryptorchidism, Barrel-shaped chest, Talipes equinov... |
OMIM:612651 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| 3C Syndrome |
|
Low-set ears, Optic atrophy, Iris coloboma, Wide nasal bridge, Depressed nasal bridge, Finger syn... |
ORPHA:7 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Abnormal sternum morphology, Abnormal heart morphology, Horseshoe... |
ORPHA:314588 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Underdeveloped nasal alae, Fin... |
ORPHA:284160 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Clitoral hypertrophy, Joint contracture of the hand, Small hand, Elbow dislocation, Cu... |
OMIM:224690 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia |
OMIM:614922 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Cryptorchidism, Abnormal antihelix morphology, Anophthalmia, Microphthalm... |
ORPHA:2162 |
| Gapo Syndrome |
|
Optic atrophy, Keratoconus, Depressed nasal bridge, Eruption failure, Megalocornea, Retinal arter... |
OMIM:230740 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathi... |
OMIM:257850 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... |
ORPHA:2578 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux |
OMIM:617660 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:2470 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Nail-Patella Syndrome |
|
Keratoconus, Patellar aplasia, Sensorineural hearing impairment, Hematuria, Talipes equinovarus, ... |
OMIM:161200 |
| Waardenburg Syndrome, Type 1 |
|
Wide nasal bridge, Hypopigmentation of the fundus, Underdeveloped nasal alae, Congenital sensorin... |
OMIM:193500 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic verteb... |
ORPHA:2347 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Umbilical hernia, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Broad ribs, Irregular ca... |
OMIM:252600 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... |
OMIM:250220 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior synechiae of the anterior chamber, Retinal vasculitis, Anorexia, Tubulointerstitial nep... |
ORPHA:91500 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Micrognathia, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Hepatic cysts, Renal ... |
OMIM:618061 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Inappropriate laughter |
OMIM:619323 |
| Gillespie Syndrome |
|
Aniridia, Postural tremor, Hypoplasia of the iris |
OMIM:206700 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Incontinentia Pigmenti |
|
Optic atrophy, Cataract, Keratitis, Delayed eruption of teeth, Supernumerary nipple, Breast aplas... |
OMIM:308300 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cryptorchidism, Bilateral sensorineural hearing impairment, Optic disc pallor, 2-5 finger syndact... |
ORPHA:468631 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Alagille Syndrome |
|
Keratoconus, Short distal phalanx of finger, Abnormality of the ureter, Abnormal pupil morphology... |
ORPHA:52 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Shoulder dislocation, Micrognathia, Mitral valve prolapse, Generali... |
OMIM:618000 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul... |
OMIM:600987 |
| Charge Syndrome |
|
Low-set ears, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Sensorineura... |
OMIM:214800 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Takenouchi-Kosaki Syndrome |
|
Low-set ears, Optic atrophy, Unilateral renal agenesis, Flared nostrils, Wide nasal bridge, Denta... |
OMIM:616737 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Orbital craniosynostosis |
ORPHA:1538 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Low-set ears, Cataract, Wide nasal bridge, Microretrognathia, Retinal coloboma, Bulbous nose, Ove... |
OMIM:618571 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices |
OMIM:614294 |
| Trisomy 18 |
|
Cryptorchidism, Bilateral single transverse palmar creases, Microphthalmia, Cyclopia, Iris colobo... |
ORPHA:3380 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Metacarpal... |
OMIM:166300 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... |
OMIM:300707 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... |
OMIM:270200 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy, Genu valgum, Astigmatism, Calcium oxalate nephrolithiasis, Mandibular prognathia |
OMIM:248000 |
| Ruijs-Aalfs Syndrome |
|
Cataract, Posterior subcapsular cataract, Clinodactyly, Hypogonadism, Bulbous nose, Elbow flexion... |
OMIM:616200 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia |
ORPHA:85321 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... |
OMIM:613876 |
| Anophthalmia Plus Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Choanal atresia, Deviation of finger, Low-set, posteriorly ro... |
ORPHA:1104 |
| Dysosteosclerosis |
|
Platyspondyly, Osteopenia, Narrow chest, Absent paranasal sinuses, Sclerosis of hand bone, Broad ... |
OMIM:224300 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Elevated urinary dopamine level, Conductive hearing impairment, Ele... |
ORPHA:29072 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Cryptorchidism, Sensorineural he... |
OMIM:612513 |
| Refsum Disease |
|
Cataract, Anosmia, Abnormal epiphysis morphology, Renal insufficiency, Retinopathy, Abnormality o... |
ORPHA:773 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Motor stereotypy |
OMIM:617830 |
| 20P13 Microdeletion Syndrome |
|
Low-set ears, Hypoplastic helices, Microcornea, Finger syndactyly, Clinodactyly, Prominent nasal ... |
ORPHA:313781 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Micrognathia, ... |
OMIM:614866 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Cataract, Postural tremor, Sensorineural hearing impairment, Urinary incontinence,... |
OMIM:270800 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Meier-Gorlin Syndrome 3 |
|
Small scrotum, Clitoral hypertrophy, Narrow chest, Microretrognathia, Slender long bone, Patellar... |
OMIM:613803 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Juvenile Sialidosis Type 2 |
|
Low-set ears, Optic atrophy, Cataract, Hearing impairment, Cherry red spot of the macula, Abnorma... |
ORPHA:93399 |
| Diphallia |
|
Penoscrotal transposition, Renal malrotation, Horseshoe kidney, Distal urethral duplication, Rena... |
ORPHA:227 |
| Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Posterior subcapsular cataract, Chorioretinal atrophy, Foveoschisis |
OMIM:258870 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Ventricular septal defect, Barrel-shaped chest, Short neck, T... |
OMIM:178110 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Narrow chest, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvi... |
OMIM:616300 |
| Neurofaciodigitorenal Syndrome |
|
Low-set ears, Unilateral renal agenesis, Hypoplasia of the premaxilla, Atresia of the external au... |
ORPHA:2673 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Cataract, Coloboma, Microphthalmia, Dysphagia |
OMIM:612379 |
| Kury-Isidor Syndrome |
|
Low-set ears, Exudative vitreoretinopathy, Finger syndactyly, Recurrent otitis media, Anteverted ... |
OMIM:619762 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Patent ductus... |
ORPHA:30 |
| Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Cataract, Choanal atresia, Depressed nasal bridge, Hearing impairment, Short dista... |
ORPHA:1914 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Occipital encephalocele |
OMIM:614815 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... |
ORPHA:370010 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Corneal Dystrophy, Congenital Stromal |
|
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Short neck, Thoracolum... |
OMIM:265000 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Micrognathia, Genu valgum, Cryptorchidism,... |
ORPHA:193 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
| Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Cryptorchidism, Anophthalmi... |
OMIM:113620 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... |
OMIM:619649 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Elevated urinary dihydrothymine level, Coloboma, Hyperactivity, Microphthalmia, Ur... |
OMIM:274270 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608636 |
| Familial Dysautonomia |
|
Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Glomerulopat... |
ORPHA:1764 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, 3-Methylglutaconic aciduria |
ORPHA:254913 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Anteverted nares, Micrognathia, Astigmatism, Down-sloping shoulders, Cubitus valgus, Mi... |
OMIM:619694 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Dilatation of... |
ORPHA:95699 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Finger aplasia, Cataract, Congenital sensorineural hearing impairment, Abnormal pupil shape, Hypo... |
ORPHA:45358 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... |
ORPHA:1836 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... |
ORPHA:54 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
ORPHA:444013 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Renal agenesis, Apla... |
OMIM:200980 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Chronic otitis media, Hypoplasia of ... |
ORPHA:169090 |
| Abruzzo-Erickson Syndrome |
|
Iris coloboma, Microcornea, Toe syndactyly, Conductive hearing impairment, Ulnar deviation of fin... |
ORPHA:921 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Encephalocele, Nephronophthisis |
OMIM:611560 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux, Umbilical hernia |
OMIM:619217 |
| Scalp-Ear-Nipple Syndrome |
|
Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Iris coloboma, Cataract, Bre... |
OMIM:181270 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Senso... |
OMIM:216400 |
| 1Q21.1 Microdeletion Syndrome |
|
Wide nasal bridge, Cataract, Toe syndactyly, Broad thumb, Bulbous nose, Clinodactyly of the 5th f... |
ORPHA:250989 |
| Laurence-Moon Syndrome |
|
Cataract, Finger syndactyly, Low-set, posteriorly rotated ears, Renal insufficiency, Cryptorchidi... |
ORPHA:2377 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nasal bridge, Optic atrophy, Cataract, Abnormal optic nerve morphology, Anteverted nares, Ab... |
ORPHA:2526 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Retinal coloboma, Bulbous nose, Hypoplastic... |
ORPHA:2328 |
| Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Marfan Syndrome |
|
Increased axial length of the globe, Ectopia lentis, Retrognathia, Hypoplasia of the iris, Microg... |
ORPHA:558 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Small scrotum, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis med... |
OMIM:270400 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly, Pelvic kidney, Dilatation of renal calices |
ORPHA:466950 |
| Woolly Hair Nevus |
|
Precocious puberty, Heterochromia iridis, Enlarged vestibular aqueduct, Brachydactyly, Persistent... |
ORPHA:79414 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Anosmia, Failure of eruption of permanent teeth, Hyposmia, Hypogonadism, External genit... |
ORPHA:2250 |
| Myopathy, Tubular Aggregate, 1 |
|
Weakness of the intrinsic hand muscles, Abnormal pupil morphology |
OMIM:160565 |
| Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
| Usher Syndrome |
|
Cataract, Abnormal vestibular function, Carious teeth, Abnormal dental enamel morphology, Decreas... |
ORPHA:886 |
| Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... |
ORPHA:93930 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
| Fibrodysplasia Ossificans Progressiva |
|
Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, P... |
OMIM:135100 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter |
ORPHA:2995 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Low-set ears, Unilateral renal agenesis, Protruding ear, Talipes equinovarus, Adducted thumb, Dev... |
OMIM:616603 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
| Usher Syndrome, Type Iiib |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy |
OMIM:614504 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Retinitis Pigmentosa 40 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:613801 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis recti, Inguinal... |
ORPHA:254528 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Short lower limbs, Retinal detachment, Bowing of the legs |
OMIM:219250 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... |
ORPHA:1834 |
| Cornelia De Lange Syndrome 1 |
|
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic labia m... |
OMIM:122470 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Recurrent upper respiratory tract infections, Rhizomelia, Short tibia, Sandal gap,... |
OMIM:607143 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Low-set ears, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atres... |
OMIM:618175 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Micrognathia, Missing ribs, Short neck, Hemivertebrae, Pectus excavatu... |
ORPHA:52047 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Mucolipidosis Type Iii |
|
Abnormal hip bone morphology, Hearing abnormality, Corneal opacity, Hypoplastic inferior ilia, La... |
ORPHA:577 |
| Rudiger Syndrome |
|
Micropenis, Ureterovesical stenosis, Ovarian cyst |
OMIM:268650 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo... |
OMIM:146510 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Retina... |
ORPHA:375 |
| Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per... |
OMIM:613843 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Renal... |
OMIM:194072 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Micrognathia, Genu valgum, Cryptorchidism, Hematuria, Proximal renal ... |
ORPHA:534 |
| Striatonigral Degeneration, Infantile |
|
Optic atrophy, Dysphagia |
OMIM:271930 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Micrognathia, Retinal detachment |
ORPHA:436182 |
| 4H Leukodystrophy |
|
Optic atrophy, Cataract, Delayed eruption of teeth, Decreased response to growth hormone stimulat... |
ORPHA:289494 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Omphalocele, Short femur |
OMIM:601357 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Hypoplastic scapulae, Narrow chest, Short toe, Thoracic dysplasia, Short finger... |
OMIM:269860 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Umbilical hernia, Recurrent urinary tract infections |
OMIM:619218 |
| Prune1-Related Neurological Syndrome |
|
Low-set ears, Optic atrophy, Cataract, Micrognathia, Retinopathy, EEG abnormality, Bilateral tali... |
ORPHA:544469 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Camptodactyly of finger, Elbow flexion contracture... |
ORPHA:1692 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:618265 |
| Curry-Jones Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, A... |
ORPHA:1553 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Patent foramen... |
OMIM:618316 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Absent scrotum, Hypoplas... |
ORPHA:495875 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Allergic rhinitis, Cataract |
OMIM:603165 |
| Gm1 Gangliosidosis |
|
Low-set ears, Cherry red spot of the macula, Abnormal scrotum morphology, Oral aversion, Abnormal... |
ORPHA:354 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Micrognathia, Limited elbow mov... |
ORPHA:1826 |
| Long-Olsen-Distelmaier Syndrome |
|
Low-set ears, Cataract, Microspherophakia, Death in childhood, Optic nerve hypoplasia |
OMIM:620609 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Bro... |
OMIM:620073 |
| Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Inguinal hernia, Perimembranous ventricular septal defect, Enamel hypoplasia, A... |
OMIM:618205 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Tremor, Microphthalmia |
OMIM:278780 |
| Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Retinopathy, Abnormality of retinal pigmentation, Abnormal nasal morpho... |
ORPHA:578 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Hearing impairment, Abnormality of the kidney, Rod-cone dystrophy, Fo... |
OMIM:209900 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Unilateral renal agenesis, Hypoplastic scapulae, Stillbirth, Aplasia ... |
OMIM:308050 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Anteverted nar... |
OMIM:216360 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Unilateral renal agenesis, Proximal tubulopathy, Retrognathia, Hyperechogenic kidn... |
OMIM:614576 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Omphalocele |
ORPHA:531 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Facial palsy, Developmental cataract, Retinal dystrophy |
OMIM:613155 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Pigmentary retinopathy, Tremor, Rod-cone dystrophy, Intention tremor, Hypergonadotropic... |
OMIM:614307 |
| Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... |
OMIM:260660 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Elbow flexion ... |
OMIM:214150 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... |
OMIM:613670 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Umbilical hernia |
OMIM:618914 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Sandal g... |
OMIM:615761 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... |
OMIM:617595 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... |
OMIM:600920 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Congenital diaphragmatic hernia, Omphalocele, Clinodactyly of the 5th finger, Syn... |
OMIM:601163 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Narrow chest, Short thorax, Abnormal rib morphol... |
ORPHA:2484 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Arthrogryposis multiplex congenita, Microphthalmia |
OMIM:616570 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... |
OMIM:263200 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Bardet-Biedl Syndrome 17 |
|
Anosmia, Postaxial foot polydactyly, Polydipsia, Short fourth metatarsal, Hypogonadism, Mesoaxial... |
OMIM:615994 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Hypogonadism, Decreased nerve conduction velocit... |
OMIM:610651 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small hand, Micrognathia, Cryptorchidism, Talipes equinovarus, Microphthalmia, Short foot, Short ... |
OMIM:268400 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Short... |
OMIM:151200 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Shor... |
ORPHA:1106 |
| Sturge-Weber Syndrome |
|
Choroidal hemangioma, Buphthalmos |
OMIM:185300 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Premature ovarian insufficiency, Sensorineural hearing impairment, In... |
ORPHA:79237 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Microcornea, Low-set, posteriorly rotated ears, Micrognathia, Abnormal scrotum mor... |
ORPHA:2505 |
| Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Highly arched eyebrow, Long eyelashes, Irritability, Long palpebral fissure |
ORPHA:411493 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Ventricular septal defect, Coxa ... |
OMIM:608149 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short metacarpal, Accelerated skeleta... |
OMIM:617190 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Myelomeningocel... |
OMIM:258040 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Micrognathia, Decreased skull ossification, Short neck, Flexion contra... |
OMIM:263210 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Low-set ears, Microcornea, Microretrognathia, Hearing impairment, Short columella, Astigmatism, C... |
OMIM:601776 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration, Microphthalmia, Shallow ante... |
OMIM:267760 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Low-set ears, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, ... |
OMIM:619339 |
| Kaposiform Lymphangiomatosis |
|
Abnormal form of the vertebral bodies, Fractures of the long bones, Abnormal scapula morphology, ... |
ORPHA:464329 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Sensorineural hearing impairment, Retinal degeneration, Colobom... |
OMIM:615249 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hip dislocation, Delayed skeletal maturation, Splenomegaly, Hepatomegaly, Short neck, Atrial sept... |
OMIM:608776 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, 11 pairs of ribs, Ventricular septal defect, Pectus excavatum, Spinal canal ... |
OMIM:618624 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Micrognathia, Hydronephrosis, Short neck, Urethral... |
ORPHA:261290 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic... |
OMIM:169550 |
| Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Hypopla... |
ORPHA:1703 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615990 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... |
ORPHA:174 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis, Spina bifida occulta |
OMIM:618060 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Congenital Microcoria |
|
Iris hypopigmentation, Nuclear cataract, Ocular hypertension, Megalocornea, Astigmatism, Corneal ... |
ORPHA:566 |
| 12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Ectopic kidney |
ORPHA:94063 |
| Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Microtia, Subcapsular cataract |
OMIM:275630 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
| Miller Fisher Syndrome |
|
Mydriasis, Anisocoria |
ORPHA:98919 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Microcornea, Retrognathia, Anteverted nares, Decreased fertility, Keratoconjunctiv... |
OMIM:234050 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity, Epicanthus |
ORPHA:85288 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodies, Supernumerary nipple... |
ORPHA:397715 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Spinal dysraphism, Nephroblastoma |
OMIM:612918 |
| Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... |
OMIM:613731 |
| Microphthalmia, Syndromic 1 |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Chorioretinal coloboma, Clinodac... |
OMIM:309800 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Distal Deletion 13Q |
|
Optic atrophy, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the thumb, Abnormality of the hand... |
ORPHA:1590 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... |
OMIM:271665 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... |
ORPHA:2790 |
| Multiple Sulfatase Deficiency |
|
Broad thumb, Hearing impairment, Broad hallux, Anteverted nares, Peripheral demyelination, Retina... |
OMIM:272200 |
| Alpha-Mannosidosis |
|
Cataract, Abnormal helix morphology, Depressed nasal bridge, Dental malocclusion, Hearing impairm... |
ORPHA:61 |
| Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Cataract, Optic disc coloboma, Anteverted nares, Prominence of... |
OMIM:304050 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... |
ORPHA:79404 |
| Lissencephaly 5 |
|
Optic atrophy, Hearing impairment, Cataract |
OMIM:615191 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Dilatation of the renal pelvis, Carpal synostosis, Hepatosplenomegaly, Micrognathi... |
OMIM:274000 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Suleiman-El-Hattab Syndrome |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Hearing impairment, Clinodactyly, Overfolded ... |
OMIM:618950 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Brachydactyly, Rhegmatogenous retinal detachment, Abnormal epiphysi... |
OMIM:619248 |
| Holt-Oram Syndrome |
|
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo... |
ORPHA:289 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Myelomeningocele |
OMIM:620141 |
| 1Q21.1 Microduplication Syndrome |
|
Cataract, Cryptorchidism, Talipes equinovarus, Attention deficit hyperactivity disorder, Hip dysp... |
ORPHA:250994 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal cupping, Micrognathia, Hip contracture, Short ribs, Bowing of the long bones, Metaphy... |
OMIM:156400 |
| Retinitis Pigmentosa 9 |
|
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... |
OMIM:180104 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia, Glaucoma |
OMIM:106220 |
| 16Q24.3 Microdeletion Syndrome |
|
Hearing impairment, Anteverted nares, Micrognathia, Astigmatism, Cryptorchidism, Protruding ear, ... |
ORPHA:261250 |
| Lamb-Shaffer Syndrome |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Bulbous nos... |
OMIM:616803 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Abnormality of the humeroulnar joint, Hypogonadism, Decreased testicular size, Abn... |
ORPHA:2234 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Motor stereotypy, Thin eyebrow |
OMIM:619690 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Hem... |
OMIM:619318 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Low-set ears, Optic atrophy, Cataract, Recurrent urinary tract infections, Prominent nose, Dysphagia |
OMIM:619527 |
| 2P15P16.1 Microdeletion Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Supernumerary nipple, Bilateral s... |
ORPHA:261349 |
| Chromosome 9P Deletion Syndrome |
|
Sandal gap, Dermatoglyphic variants, Inguinal hernia, Ventricular septal defect, Clinodactyly of ... |
OMIM:158170 |
| Alexander Disease |
|
Death in adolescence, Microcoria, Death in childhood, Death in infancy |
OMIM:203450 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Aniridia 3 |
|
Cataract, Aniridia, Glaucoma |
OMIM:617142 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Optic atrophy, P... |
OMIM:617087 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... |
OMIM:259440 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:603860 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly... |
ORPHA:818 |
| Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices |
ORPHA:319182 |
| Cednik Syndrome |
|
Optic atrophy, Depressed nasal ridge, Hypogonadism, Prominent nasal bridge, Abnormality of periph... |
ORPHA:66631 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Oligosacchariduria, Corneal opacity, Mixed hearing impairment, Optic disc pallor |
ORPHA:309288 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Toe syndactyly, Retinopathy, Aplasia/Hypoplasia of the fove... |
ORPHA:2611 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Attention deficit hyperactivit... |
OMIM:618504 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pelvic kidney, Dilatation of renal calices |
ORPHA:466943 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... |
OMIM:184460 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Unilateral renal dysplasia, A... |
OMIM:184705 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Genu valgum, Cryptorchidism, Proximal renal tubul... |
OMIM:309000 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Toe syndactyly, Progressive hearing impairment, Decreased respons... |
OMIM:619234 |
| Distal Duplication 15Q |
|
Arachnodactyly, Pectus excavatum, Omphalocele, Camptodactyly of finger |
ORPHA:1707 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Ectopia lentis, Brachydactyly, Ocular hypertension, Shallow anterior chamber |
OMIM:614819 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Abnormality of retinal pigmentation, Ptosis, Palpebral edema, Iris coloboma |
ORPHA:1259 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Tetralogy of Fallot, Micrognathia, Horizontal ribs, Complete atriovent... |
OMIM:617925 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Hand clenching, Bulbous nose, Micrognathia, ... |
OMIM:618766 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Unilateral renal agenesis, Narrow chest, Undulate ribs, Ova... |
OMIM:618188 |
| Branchio-Oculo-Facial Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Multicystic kidney dysplasia, Conductive hearing impair... |
ORPHA:1297 |
| Mucopolysaccharidosis Type 1 |
|
Optic atrophy, Depressed nasal bridge, Abnormal epiphysis morphology, Hearing impairment, Thick n... |
ORPHA:579 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Low-set ears, Unilateral renal agenesis, Depressed nasal bridge, Hearing impairment, Sandal gap, ... |
OMIM:619951 |
| Wolfram-Like Syndrome |
|
Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Abnormality of the... |
ORPHA:411590 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Prominent ear helix, Large earlobe, Bulbous nose, Anteverted nares, Prominent na... |
ORPHA:411986 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Cataract, Ectopia lentis, Genu valgum, Abnormality of retinal pigmentation, Arachn... |
ORPHA:394 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
| Femoral-Facial Syndrome |
|
Micrognathia, Humeroradial synostosis, Limited elbow movement, Ventricular septal defect, Radioul... |
OMIM:134780 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
| Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
| Stiff Skin Syndrome |
|
Sensorineural hearing impairment, Retinal detachment, Nephrolithiasis |
ORPHA:2833 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Self-injurious behavior, Depressed nasal bridge, Hearing impairment, Bulbous nose, Prominent nasa... |
OMIM:618828 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... |
OMIM:312150 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Broad nasal tip, Decreased response to growth hormone stimulation test... |
OMIM:609757 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, 11 pairs of ribs, Complete atrioventricular canal defect, Encephaloce... |
OMIM:264480 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Conductive hearing impairment, Retinal thinning, Genu valgum, Ast... |
OMIM:132450 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Irritability, Epicanthus, Rod-cone dystrophy, Dysphagia |
OMIM:264470 |
| Triple A Syndrome |
|
Optic atrophy, Palmoplantar keratoderma, Motor axonal neuropathy, Sensorineural hearing impairmen... |
ORPHA:869 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cataract, Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Optic disc hypoplasi... |
ORPHA:79345 |
| Trisomy 9P |
|
Impacted tooth, Abnormal pupil morphology, Bilateral single transverse palmar creases, Protruding... |
ORPHA:236 |
| Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
| 2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptor... |
ORPHA:251014 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Depression, Irritability, Retinal degeneration |
OMIM:256730 |
| Developmental And Epileptic Encephalopathy 73 |
|
Cataract, Narrow nasal bridge, Sensorineural hearing impairment, Hip dysplasia, Restlessness, Sho... |
OMIM:618379 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Hypsarrhythmia, Retinal degeneration |
ORPHA:542306 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Microcornea, Hip dislocation, Elbow flexion contracture, Abnormality of the brachial nerve plexus... |
ORPHA:1900 |
| Martsolf Syndrome 1 |
|
Low-set ears, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphthalmia,... |
OMIM:212720 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Anosmia, Hearing impairment, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:244200 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Limited elbow ... |
OMIM:100800 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Marinesco-Sjögren Syndrome |
|
Optic atrophy, Cataract, Hypogonadism, External genital hypoplasia, Avascular necrosis of the cap... |
ORPHA:559 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Cataract, Hypoplasia of the zygomatic bone, Sandal gap, Large earlobe, Renal insuf... |
ORPHA:2715 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Cryptorchidism, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... |
ORPHA:3467 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... |
OMIM:145001 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta... |
ORPHA:1278 |
| White-Kernohan Syndrome |
|
Horseshoe kidney, Hydronephrosis, Hydroureter |
OMIM:619426 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Hyperactivity |
OMIM:300983 |
| WAGR 11p13 deletion syndrome |
|
Renal neoplasm, Aniridia, Abnormality of the male genitalia |
DECIPHER:35 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Renal hypoplasia, Bilateral microphthalmos, Tetralogy of Fallot, Horsesh... |
OMIM:601186 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts |
OMIM:263630 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
| Mevalonic Aciduria |
|
Low-set ears, Cataract, Nuclear cataract, Underdeveloped nasal alae, Attenuation of retinal blood... |
OMIM:610377 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Joint contracture of the hand, Recurrent urinary... |
OMIM:609033 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Death in infancy, Brachydactyly, Microphthalmia, ... |
OMIM:602361 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction |
OMIM:618975 |
| Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria |
OMIM:278300 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Vici Syndrome |
|
Optic atrophy, Cataract, Abnormal macular morphology, Depressed nasal tip, Renal tubular acidosis... |
ORPHA:1493 |
| C Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... |
OMIM:211750 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Severe temper tantrums |
OMIM:619052 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Wide nasal bridge, Mandibular prognathia, Microretrognathia, Bulbous nose, Retinal arterial tortu... |
OMIM:620371 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Facial paralysis, Decreased motor nerve conduction velocity, Abnormal optic nerve ... |
ORPHA:99949 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Joint contracture of the hand, Clinodac... |
OMIM:601110 |
| Scheie Syndrome |
|
Depressed nasal bridge, Genu valgum, Retinal degeneration, Corneal opacity, Mandibular prognathia... |
OMIM:607016 |
| Meckel Syndrome, Type 5 |
|
Renal cyst, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Abnormal heart morphology, Muscula... |
ORPHA:363444 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Brachyda... |
OMIM:613195 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... |
ORPHA:84081 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract, Abnormality of tibial epiphyses, Arthralgia of the hip, Hearing impairment, Abnormal ha... |
ORPHA:166011 |
| Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Patent ductus arteriosus |
OMIM:603467 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy |
OMIM:619389 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Developmental And Epileptic Encephalopathy 36 |
|
Low-set ears, Optic atrophy, Small hand, Microretrognathia, Anteverted nares, Self-mutilation, Hy... |
OMIM:300884 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... |
ORPHA:3082 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... |
OMIM:217800 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... |
ORPHA:322 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Renal hypoplasia, Patent ductus arteriosus, Ureteral stenosis |
OMIM:270100 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Renal cyst, Micropenis, Hypospadias |
OMIM:614175 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... |
ORPHA:2635 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Patent ductus arteriosus |
OMIM:300048 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Missing ribs, Dextrocardia, Hepatom... |
ORPHA:1759 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Ventral hernia, Bi... |
OMIM:618529 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... |
OMIM:615415 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Telecanthus, Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Co... |
OMIM:619927 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... |
ORPHA:93351 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal peri... |
ORPHA:1335 |
| Glaucoma 1, Open Angle, F |
|
Ocular hypertension, Increased cup-to-disc ratio |
OMIM:603383 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Joint hypermobility, Missing ribs, Ventric... |
ORPHA:1488 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
| Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Jacobsen Syndrome |
|
Low-set ears, Optic atrophy, Microcornea, Iris coloboma, Annular pancreas, Depressed nasal bridge... |
OMIM:147791 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Micromelia, Absent radius, Micrognathia, Humeroradial sy... |
OMIM:251230 |
| Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Cataract, Palmoplantar hyperkeratosis, Opt... |
OMIM:615280 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Dysphagia |
ORPHA:1171 |
| Craniolenticulosutural Dysplasia |
|
Wide nasal bridge, Optic atrophy, Posterior Y-sutural cataract, Carious teeth, High iliac wing, D... |
OMIM:607812 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct... |
OMIM:113650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Ov... |
ORPHA:464738 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hearing impairment, Hand tremor |
ORPHA:401830 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Flynn-Aird Syndrome |
|
Cataract, Carious teeth, Progressive sensorineural hearing impairment, Rod-cone dystrophy |
OMIM:136300 |
| Triploidy |
|
Narrow chest, Finger syndactyly, Abnormal cardiac septum morphology, Omphalocele, Meningocele, Ap... |
ORPHA:3376 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morphology, Retinal dystr... |
ORPHA:1021 |
| Hajdu-Cheney Syndrome |
|
Genu valgum, Micrognathia, Ventricular septal defect, Crowded carpal bones, Absent frontal sinuse... |
OMIM:102500 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... |
OMIM:253290 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... |
OMIM:271650 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Carpal synostosis, Sensorineural hearing impairment, Talipes equinovarus, T... |
OMIM:272460 |
| Tetrasomy 15Q26 |
|
Horseshoe kidney, Hydronephrosis, Patent ductus arteriosus |
OMIM:614846 |
| Fraser Syndrome 1 |
|
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m... |
OMIM:219000 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Cataract, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, ... |
ORPHA:2399 |
| Raine Syndrome |
|
Hydronephrosis, Hydroureter |
OMIM:259775 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
| Stickler Syndrome |
|
Hearing impairment, Micrognathia, Genu valgum, Sensorineural hearing impairment, Arachnodactyly, ... |
ORPHA:828 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl... |
ORPHA:93357 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Hydronephrosis, ... |
ORPHA:1780 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Hepatomegaly, Short neck, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:608104 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Cataract, Hypoplasia of the maxilla, Hearing impairment, Micr... |
OMIM:301108 |
| Crouzon Syndrome |
|
Optic atrophy, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing... |
ORPHA:207 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Cataract, Camptodactyly of finger, EEG abnormality, Retinal dysplasia |
ORPHA:272 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Pigmentary retinopathy, Hypospadias, Peters anomaly, Clitoral hypertrophy, Hearing impa... |
OMIM:309801 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Decreased nerve... |
ORPHA:90658 |
| Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Limba... |
ORPHA:2363 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Low-set ears, Cataract, Microcornea, Depressed nasal bridge, Hip dislocation, Epiphyseal stipplin... |
ORPHA:35173 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Sensorineural hearing impairment, Split hand |
ORPHA:2440 |
| Hurler Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Recurrent otitis ... |
OMIM:607014 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Cataract, Protruding ear, Talipes equinovarus, Macrotia |
OMIM:617481 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Micrognathia, Delayed pubic bone ossification, Ab... |
OMIM:119600 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... |
OMIM:201170 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Trichinellosis |
|
Abnormal optic nerve morphology, Vertigo, Central retinal artery occlusion, Conjunctival hyperemi... |
ORPHA:863 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Low-set ears, Undetectable visual evoked potentials, Dental malocclusion, Broad columella, Underd... |
ORPHA:436245 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Meningocele |
OMIM:620511 |
| Optic Atrophy 15 |
|
Optic atrophy, Optic disc pallor |
OMIM:620583 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Patent ductus arteriosus |
OMIM:610759 |
| Microphthalmia, Isolated 8 |
|
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... |
OMIM:615113 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... |
OMIM:613874 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... |
OMIM:613095 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Cryptorchidism, Microphthalmia, Mandibular prognathia, Split foot |
OMIM:601349 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Hearing impairment, Aplasia/Hypoplasia of the optic nerve, Unilateral cryptorchi... |
ORPHA:137634 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Cataract, Microcornea, Clitoral hypertrophy, Retrognathia, Anteverted nares, Single... |
OMIM:616449 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Axonal degeneration... |
OMIM:609260 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Palmoplantar hyperkeratosis, Orthostatic hypotension, Abn... |
OMIM:231550 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... |
OMIM:603116 |
| Mosaic Trisomy 9 |
|
Low-set ears, Elbow dislocation, Micrognathia, Cryptorchidism, Talipes equinovarus, Microphthalmi... |
ORPHA:99776 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... |
OMIM:617796 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Hearing impairment, Decreased testicular size, Infertility, Head tremor, Peripheral axo... |
ORPHA:320391 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Sanjad-Sakati Syndrome |
|
Depressed nasal bridge, Small hand, Low-set, posteriorly rotated ears, Abnormal dental enamel mor... |
ORPHA:2323 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opacity, Flat ac... |
OMIM:271530 |
| Squalene Synthase Deficiency |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Elevated urine mesaconic acid level, Bilatera... |
OMIM:618156 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiom... |
OMIM:617022 |
| Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Overlapping fingers, Micrognathia, Cryptorchidism,... |
ORPHA:79324 |
| Srd5A3-Cdg |
|
Optic atrophy, Cataract, Palmoplantar keratoderma, Optic disc hypoplasia, Decreased response to g... |
ORPHA:324737 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Absent th... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Umbilical hernia, Stage 5 chronic kidney disease, Reduced ... |
OMIM:266920 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocation, Micromelia, Short fi... |
ORPHA:628 |
| Williams Syndrome |
|
Carious teeth, Megalocornea, Micrognathia, Genu valgum, Cryptorchidism, Death in early adulthood,... |
ORPHA:904 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Mosaic Trisomy 8 |
|
Broad nasal tip, Hearing impairment, Camptodactyly of finger, Decreased testicular size, Antevert... |
ORPHA:96061 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... |
OMIM:604292 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Pectus carinatum, Hypertrophic cardiomyopathy, Ace... |
OMIM:617303 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Opacification of the corn... |
ORPHA:1643 |
| Infantile Refsum Disease |
|
Optic atrophy, Cataract, Abnormal epiphysis morphology, Hearing impairment, Sensorineural hearing... |
ORPHA:772 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Low-set ears, Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Abnormality of patter... |
ORPHA:166035 |
| Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pseudobulbar paralysis |
OMIM:617082 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hernia, Ventricular septal defect, Microphthalmia, Syndactyly |
OMIM:602501 |
| Cat Eye Syndrome |
|
Low-set ears, Renal agenesis, Hearing impairment, Chorioretinal coloboma, Horseshoe kidney, Steno... |
OMIM:115470 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Sensorineural hearing impairment, Aplasia of the nasal bone, Flexion contracture of... |
OMIM:601812 |
| Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... |
ORPHA:90652 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Underdeveloped nasal alae, Absent thumb, ... |
ORPHA:1234 |
| Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Decreased calvarial ossification, Short neck, Single ventricle, ... |
OMIM:619879 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, Cherry red spot of the macula, EEG with focal sharp waves, Ste... |
OMIM:617302 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Keratoconus, Microcornea, D... |
OMIM:225400 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis, Patent ductus arteriosus |
OMIM:179613 |
| Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Rhinitis, Corneal opacity |
ORPHA:93476 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility |
OMIM:617333 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Congenital sensorineural hearing impairment, Micrognathia, Coloboma, Micro... |
OMIM:617306 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st meta... |
OMIM:620305 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... |
ORPHA:49041 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Dysphagia |
OMIM:164500 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:248700 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Mend Syndrome |
|
Low-set ears, Cataract, Microretrognathia, Broad hallux, Bulbous nose, Crossed fused renal ectopi... |
OMIM:300960 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Optic atrophy, Hearing impairment, Bulbous nose, Anteverted nares, Astigmatism, Unilateral facial... |
OMIM:618547 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Optic atrophy, Dysphagia, Peripheral axonal neuropathy |
OMIM:620221 |
| Fryns Syndrome |
|
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias |
OMIM:229850 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Micromelia, Abnormally ossified vertebrae, Abnormal thorax morpholo... |
ORPHA:1318 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Self-mutilation, Decreased body weight |
OMIM:614063 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Ret... |
OMIM:613792 |
| Mucopolysaccharidosis Type 3 |
|
Hearing impairment, Urinary glycosaminoglycan excretion, Genu valgum, Sensorineural hearing impai... |
ORPHA:581 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Platyspondyly, Broad clavicles, Narrow chest, Aplastic clavicle, Rhizomelia... |
ORPHA:50945 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morphology, Fused ... |
ORPHA:1445 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Oculomaxillofacial Dysostosis |
|
Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Camptodactyly of finger, M... |
ORPHA:1794 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... |
ORPHA:313892 |
| Kbg Syndrome |
|
Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Congenital malfo... |
ORPHA:2332 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Abnormal rib morphology, Tibial bowing, Lower limb undergrowth, Bowing of the long... |
ORPHA:3035 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy, Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum m... |
ORPHA:64755 |
| Refsum Disease, Classic |
|
Cataract, Anosmia, Sensorineural hearing impairment, Retinal degeneration, Rod-cone dystrophy, Sh... |
OMIM:266500 |
| Martsolf Syndrome 2 |
|
Cataract, Broad nasal tip, Camptodactyly of finger, Overlapping toe, Hypogonadotropic hypogonadis... |
OMIM:619420 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Umbilical hernia, Nephroblastoma, Hydronephrosis, Uret... |
ORPHA:373 |
| Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Cryptorchidism, Hypospadias |
ORPHA:1738 |
| Congenital Varicella Syndrome |
|
Cataract, Micromelia, Microphthalmia |
ORPHA:291 |
| Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Optic atrophy, Cataract, Hypogonadism, Sensorineural hearing impairment, Scapular winging, Dyspha... |
ORPHA:98673 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Camos Syndrome |
|
Optic atrophy, Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Supernumerary maxillary incisor, Prominent nose, Promi... |
OMIM:302350 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad clavicles, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, ... |
ORPHA:371428 |
| Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Multicystic kidney dysplasia, Elbow dislocation, Renal agenesis, Short thumb, ... |
ORPHA:2538 |
| Schisis Association |
|
Micromelia, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Omphalocele, Anencephaly |
ORPHA:63862 |
| Cardiospondylocarpofacial Syndrome |
|
Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Muscular ventricul... |
OMIM:157800 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Conductive hearing impairment, Renal agenesis, Azoospermia, Micrognath... |
OMIM:601076 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Cataract, Glycosuria, Hearing impairment, Stage 5 chronic kidney disease, Sensorin... |
OMIM:268315 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Wide nasal bridge, Unilateral renal agenesis, Depressed nasal bridge, Broad nasal tip, Broad midd... |
ORPHA:221139 |
| Fryns Syndrome |
|
Wide nasal bridge, Short distal phalanx of finger, Multicystic kidney dysplasia, Low-set, posteri... |
ORPHA:2059 |
| Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Small hand, Optic disc coloboma, Chorioretinal coloboma, Abnor... |
ORPHA:50 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Glaucoma |
OMIM:618005 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Postaxial polydactyly, Hypospadias |
OMIM:615985 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618709 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Hearing impairment, Facial diplegia, Di... |
OMIM:122860 |
| Androgen Insensitivity, Partial |
|
Abnormal rib cage morphology, Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonad... |
OMIM:312300 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract, Broad nasal tip, Motor stereotypy |
OMIM:617393 |
| Retinitis Pigmentosa 84 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:618220 |
| Moebius Syndrome |
|
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Micropht... |
OMIM:157900 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane |
OMIM:148200 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Ambiguous genitalia, Abnormal rib morphology, Hy... |
ORPHA:276422 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Mend Syndrome |
|
Low-set ears, Cataract, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Micro... |
ORPHA:401973 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Retinopathy, Renal tubular dysfuncti... |
ORPHA:213 |
| Antiphospholipid Syndrome, Familial |
|
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr... |
OMIM:107320 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Narrow chest, Micromelia, Short ribs, Short neck, Atrial septal defect, Microp... |
OMIM:616546 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Hearing impairment, Finger syndactyly... |
ORPHA:1647 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type |
|
Optic atrophy, Hearing impairment, Death in childhood |
OMIM:309555 |
| Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge, Optic atrophy, Short distal phalanx of finger, Broad thumb, Acetabular dysplas... |
OMIM:201180 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis |
ORPHA:2083 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal... |
ORPHA:2319 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Encephalocele, Talipes equinovarus, Hand polydactyly, Omphalocele, ... |
OMIM:217100 |
| Costello Syndrome |
|
Keratoconus, Depressed nasal bridge, Ulnar deviation of finger, Low-set, posteriorly rotated ears... |
ORPHA:3071 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Exudative vitreoretinopathy, Optic atrophy, Self-mutilation, Aggressive behavior, Restlessness, D... |
OMIM:615075 |
| Seckel Syndrome 5 |
|
Clitoral hypertrophy, 11 pairs of ribs, Micrognathia, Cryptorchidism, Clinodactyly of the 5th fin... |
OMIM:613823 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Halperin-Birk Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Talipes equinovarus, Perimemb... |
OMIM:618651 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Hyperlor... |
ORPHA:26791 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... |
ORPHA:2759 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis |
OMIM:619185 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Aggressive behavior, Restlessness, Agitation |
OMIM:300438 |
| Proteus Syndrome |
|
Low-set ears, Carious teeth, Finger syndactyly, Chorioretinal coloboma, Exostosis of the external... |
ORPHA:744 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Absent internal auditory canal, Self-injurious behavior, Sensory axonal neuropathy, Profound sens... |
OMIM:620469 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... |
ORPHA:280633 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Hearing impairment, Finger syndactyly, Breast aplasia, Absent h... |
ORPHA:570 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Retrognathia, Bruxism, Retinopathy, Death in childhood, Tremor, Self-mutilation, B... |
OMIM:619422 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Meningocele |
ORPHA:2031 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of... |
OMIM:252500 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Meningocele, Anencephaly, Encephalocele |
OMIM:611134 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Carious teeth, Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia,... |
ORPHA:2710 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Low-set ears, Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutane... |
OMIM:618419 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Patent ductus arteriosus, Hyperc... |
ORPHA:369837 |
| Renpenning Syndrome |
|
Cataract, Iris coloboma, Mandibular prognathia, Broad columella, Decreased testicular size, Promi... |
ORPHA:3242 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Abnormality of the ureter, Spina bifida occulta, Meningocele, Hypospadias |
ORPHA:2311 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Depression, Peripheral axonal neuropathy |
OMIM:619425 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Galactosuria, Enuresis nocturna, Abnormal temper tantrums, Childhood onset sensorin... |
ORPHA:251061 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| 22Q11.2 Duplication Syndrome |
|
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus |
ORPHA:1727 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Depressed nasal bridge, Ulnar deviation of finger, Low-set, posteriorly rotated ears, A... |
ORPHA:1387 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Brachioradialis areflexia, Rhizomelia, Bulbous nose, Micrognathia, 3-Methylglutaconic a... |
OMIM:616271 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, EEG with pho... |
ORPHA:168491 |
| Lowry-Maclean Syndrome |
|
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Talon cusp, Retrognathia, Bilateral cry... |
ORPHA:2409 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplasia/apla... |
ORPHA:709 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Short hallux, Abnormality of the kidney, Tics, Dysphagia, Short 5th ... |
ORPHA:508488 |
| Xq25 Microduplication Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Hyperactivity, Abnormality of the palpebral fi... |
ORPHA:521258 |
| Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Omphalocele |
OMIM:614450 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... |
OMIM:311070 |
| Chime Syndrome |
|
Abnormality of the outer ear, Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the t... |
ORPHA:3474 |
| Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Preaxial hand polydactyly |
OMIM:210350 |
| Mietens Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Hypoplasia of the ulna, Elbow dislocation, Avascular ne... |
ORPHA:2557 |
| Atelis Syndrome 2 |
|
Low-set ears, Clinodactyly, Bulbous nose, Prominent nose, Micrognathia, Single transverse palmar ... |
OMIM:620185 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Cryptorchidism, Sensorineural hearing impairment, ... |
ORPHA:1606 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Motor stereotypy, Short nose, Optic nerve hypoplasia |
ORPHA:228384 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Low-set ears, Optic atrophy, Elevated urine acetoacetic acid level, Cataract, Alpha-aminoadipic a... |
OMIM:620089 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Micrognathia, Talipe... |
OMIM:213980 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Hemiatrophy, St... |
OMIM:302960 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Emotional lability, Decreased nerve conduction velocity |
ORPHA:98890 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect |
OMIM:618782 |
| Phace Association |
|
Optic atrophy, Lingual thyroid, Horner syndrome, Developmental cataract, Increased retinal vascul... |
OMIM:606519 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Supernumerary nipple, Tibial torsion, Overlapping toe, Vesicoureteral reflux, Crypt... |
OMIM:618653 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... |
ORPHA:423461 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, General... |
ORPHA:52368 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Ventricular septal defect, Kyphoscoliosis, Hydronephrosis, Perimembr... |
OMIM:301040 |
| Joubert Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Nephronophthisis, Postaxial foot polydactyly, Optic disc co... |
OMIM:608091 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Microphthalmia, Hyp... |
OMIM:616975 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flared nostrils, Optic atrophy, Unilateral renal agenesis, Wide nasal bridge, Dental malocclusion... |
ORPHA:487796 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia |
OMIM:154230 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
| Witteveen-Kolk Syndrome |
|
Flared nostrils, Small hand, Toe syndactyly, Hearing impairment, Male urethral meatus stenosis, H... |
OMIM:613406 |
| Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... |
OMIM:129900 |
| Truncus Arteriosus |
|
Aortic regurgitation, Interrupted aortic arch, Pulmonary artery hypoplasia, Pulmonary artery atre... |
ORPHA:3384 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Motor stereotypy, Dysphagia |
OMIM:617862 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Hearing abnormality |
ORPHA:1065 |
| Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of penis, Hypoplasia of the bladder, Bilateral renal agenesis |
OMIM:617667 |
| Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Hearing impairment, Finger synd... |
ORPHA:110 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, Clitoral hypertrophy, Sandal gap, Hypoplasia of proximal radius, Elbow flexion c... |
OMIM:210600 |
| Down Syndrome |
|
Keratoconus, Cataract, Depressed nasal ridge, Conductive hearing impairment, Depressed nasal brid... |
ORPHA:870 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:607361 |
| Adams-Oliver Syndrome 5 |
|
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... |
OMIM:616028 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atr... |
OMIM:208540 |
| Frank-Ter Haar Syndrome |
|
Buphthalmos, Abnormally large globe, Developmental glaucoma, Megalocornea |
OMIM:249420 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Astigmatism |
OMIM:616680 |
| Phenylketonuria |
|
Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper... |
OMIM:261600 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Overfriendliness, Restlessness, S... |
ORPHA:369891 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Low-set ears, Cataract, Choanal atresia, Wide nasal bridge, Depressed nasal bridge, Hearing impai... |
OMIM:300968 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Abnormal tibia morphology, Contracture of the distal inte... |
ORPHA:2614 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Low-set ears, Optic atrophy, Retrognathia, Astigmatism, Retinal dystrophy, Wide nose |
OMIM:620428 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... |
ORPHA:293603 |
| Mucopolysaccharidosis Type 2 |
|
Sensorineural hearing impairment, Motor stereotypy, Wide nose, Decreased nerve conduction velocit... |
ORPHA:580 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Micrognathia, Short neck, Subvalvular aortic stenosis, Microphthalmia... |
ORPHA:3191 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Cone-shaped epiphysis, Hydrometrocolpos, Horizontal ribs, Short ribs, Postaxial pol... |
OMIM:617088 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias |
OMIM:269150 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Joint hypermobility, Ventricular septal defect, Decreased cal... |
ORPHA:2772 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Cataract, Hearing impairment, Prominent nasal bridge, Hypsarrhythmia, Motor s... |
OMIM:619877 |
| Alkaptonuria |
|
Aortic valve calcification, Elevated urinary homogentisic acid, Limited hip movement, Decreased g... |
OMIM:203500 |
| Harrod Syndrome |
|
Cataract, Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Dental malocclusi... |
ORPHA:2115 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Upper limb undergrowth... |
ORPHA:94068 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Mitral valve prolapse,... |
OMIM:211960 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Genu valgum, Micrognathia, Mitral valve prolapse, Radioulnar synostosis, Short neck, Bicuspid aor... |
OMIM:245600 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Renal cy... |
OMIM:618454 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Aortic valve stenosis, Broad clavicles, Irregular acetabular roof, Broad ribs, Gen... |
OMIM:619698 |
| Hallermann-Streiff Syndrome |
|
Low-set ears, Cataract, Natal tooth, Dental malocclusion, Optic disc coloboma, Chorioretinal colo... |
OMIM:234100 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Low-set ears, Cataract, Broad thumb, Broad hallux, Wide nasal ridge, Macrotia |
ORPHA:3433 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal b... |
ORPHA:1791 |
| Hurler Syndrome |
|
Wide nasal bridge, Abnormal nerve conduction velocity, Depressed nasal bridge, Abnormal epiphysis... |
ORPHA:93473 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| 3Mc Syndrome 3 |
|
Hearing impairment, Bifid scrotum, Clinodactyly, Horseshoe kidney, Auricular pit, Preaxial polyda... |
OMIM:248340 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Unilateral renal agenesis, Abnormal helix morphology, Depressed nasal ridge, Toe sy... |
ORPHA:261337 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Optic disc coloboma, Chorioretinal colob... |
ORPHA:1454 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Broad thumb, Cryptorchidism, Sensorineural hearing impairment, Hyposp... |
ORPHA:353281 |
| Hydrolethalus |
|
Micromelia, Anophthalmia, Postaxial hand polydactyly, Microphthalmia, Anencephaly |
ORPHA:2189 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Vestibular hypofunction, Abnormal dental enamel morphology, Sens... |
ORPHA:231169 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly, Retinal detachment, Hearing impairment |
ORPHA:3218 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Broad thumb, Abnormal vagina morphology, Hearing impairment, Chorioretinal colobo... |
ORPHA:857 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Micrognathia, Cryptorchi... |
ORPHA:3404 |
| Chromosome 10Q26 Deletion Syndrome |
|
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... |
OMIM:609625 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Spina bifida, Nephroblastoma |
ORPHA:2874 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Pendred Syndrome |
|
Nephropathy, Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality... |
ORPHA:705 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Umbilical hernia, Large placenta, Vesicoureteral reflux, Nephroblastoma, Nephrolithi... |
ORPHA:116 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Short finger, Decreased testicular size, External genital hypoplasia, Cryptorchidism, C... |
ORPHA:1867 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Cone/cone-rod dystrophy, Re... |
OMIM:602271 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... |
ORPHA:63260 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Retinal vascular tortuosity, Bilateral cryptorchidism, Preaxial foot polydacty... |
OMIM:619471 |
| Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys |
OMIM:619695 |
| Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Bell-shaped thorax, Anophthalmia, Splenomegaly, Short ribs, Renal cyst |
OMIM:615636 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, ... |
OMIM:607131 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior |
OMIM:619150 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Patent du... |
OMIM:267010 |
| Tarp Syndrome |
|
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... |
OMIM:311900 |
| Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Hyperglycemia, Type II diabetes mellitus, Sensorineural he... |
OMIM:520000 |
| Chopra-Amiel-Gordon Syndrome |
|
Flared nostrils, Unilateral renal agenesis, Thick nasal alae, Attention deficit hyperactivity dis... |
OMIM:619504 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Wide nasal bridge, Optic atrophy, Mydriasis, Broad femoral neck, Hearing impairment, Anteverted n... |
OMIM:619727 |
| Kondoh Syndrome |
|
Interphalangeal joint contracture of finger, Preaxial hand polydactyly |
OMIM:606242 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Macrotia, Posteriorly rotated ears, Brachydactyly, Short femoral neck, Delayed ossifica... |
OMIM:618392 |
| Nager Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia o... |
ORPHA:245 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Elbow dislocation, Micrognathia, Hip contracture, Ventricular se... |
OMIM:210710 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior rib cupping, S... |
OMIM:608728 |
| Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis, Retinal degeneration |
OMIM:614845 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pectus carinatum, Abnormal heart morphology, Hypertrophic cardiomyopathy, Joint stiffness, Lumbar... |
ORPHA:505248 |
| Chromosome 13Q14 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Chorioretinal coloboma, Supernumerary nipple, Bulbous nose, Ove... |
OMIM:613884 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Laurence-Moon Syndrome |
|
Small scrotum, Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the han... |
OMIM:245800 |
| Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia |
ORPHA:104 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract, Postural tremor |
OMIM:300619 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Cataract, Peripheral demyelination, Limb tremor, Dysphagia, Retinal dystrophy |
OMIM:614877 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Wide nasal bridge, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Moto... |
OMIM:620502 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... |
OMIM:601382 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria |
OMIM:615926 |
| Jackson-Weiss Syndrome |
|
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... |
ORPHA:1540 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Rod-cone dystrophy, Iris atrophy |
OMIM:620422 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus ca... |
OMIM:101200 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... |
OMIM:618395 |
| Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:602668 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal ... |
ORPHA:456328 |
| Chops Syndrome |
|
Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Patent foramen ovale, Vent... |
OMIM:616368 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Cone-shaped epiph... |
OMIM:617102 |
| Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Pigmentary retinopathy, Polydactyly, Abnormal renal morphology, Rod-con... |
OMIM:616562 |
| Nephroblastoma |
|
Hematuria, Aniridia, Nephroblastoma |
ORPHA:654 |
| Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Mycophenolate Mofetil Embryopathy |
|
Atresia of the external auditory canal, Hearing impairment, Chorioretinal coloboma, Anotia, Micro... |
ORPHA:268249 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... |
ORPHA:231183 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Microphallus, Bifid scrotum, Ectrodactyly, Micrognathia, Abnormal scrotum morph... |
ORPHA:397590 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Hearing impairment, Cryptorchidism, Tremor, Hydronephrosis, Exaggerated startle response |
OMIM:620327 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic atrophy, Upslanted palpebral fissure, Epicanthus, Compulsive behaviors, Optic disc pallor |
OMIM:615722 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Occipital encephalocele... |
ORPHA:887 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Roberts Syndrome |
|
Long penis, Synostosis of carpal bones, Mesomelic arm shortening, Micrognathia, Patellar aplasia,... |
ORPHA:3103 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy |
OMIM:620065 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Slender finger, Prominent fingertip pads, Recurrent urinary trac... |
OMIM:610443 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ... |
ORPHA:264450 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Proximal tubulopathy |
OMIM:602579 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Choanal atresia, Cupped ear, Finger syndactyly, Clinodactyly of the 2nd fi... |
ORPHA:93932 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Recurrent upper respiratory tract infections, Carious teeth, Hearing impa... |
OMIM:253010 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Bilateral cryptorchidism, Preaxial polydactyly, Micrognathia, Hand polydacty... |
ORPHA:2754 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Recurrent urinary tract infections... |
OMIM:613680 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Abnormal tragus morphology, Postaxial hand polyd... |
ORPHA:66625 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Retinal vascular tortuosity |
OMIM:618768 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Hip dislocation, Narrow chest, Flared metap... |
OMIM:309350 |
| Coffin-Lowry Syndrome |
|
Death in early adulthood, Sensorineural hearing impairment, Large hands, Short metacarpal, Wide n... |
ORPHA:192 |
| D-Lactic Aciduria With Gout |
|
Elevated urine D-lactate level, Aniridia, Lacticaciduria |
OMIM:245450 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment |
OMIM:217400 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mesomelia, Depressed nasal bridge, Posterior subcapsular cataract, Metaphyseal irregularity, Rhiz... |
OMIM:271510 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Downslanted palpebral fissures, Telecanthus, Almond-shaped palpebral fissure, Epicanthus, Attenti... |
OMIM:620292 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Broad nasal tip, Depressed ... |
ORPHA:468678 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Hearing impairment, Underdeveloped nasal alae, Clef... |
ORPHA:364577 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly |
OMIM:601355 |
| Trichothiodystrophy 3, Photosensitive |
|
Low-set ears, Cataract, Carious teeth, Natal tooth, Hearing impairment, Bilateral cryptorchidism,... |
OMIM:616395 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Astigmatism, Upper limb hypertonia |
OMIM:619328 |
| Monosomy 9Q22.3 |
|
Low-set ears, Cataract, Palmar pits, Delayed eruption of teeth, Retinopathy, Nephroblastoma, Poly... |
ORPHA:77301 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal motor evoked potentials, Resting tremor, Abnormal tibia morphology, Abnormal retinal vas... |
ORPHA:909 |
| Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Macular edema, Vertigo, Elevated urinary catecholamine level, Hyper... |
ORPHA:892 |
| Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... |
OMIM:312600 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus |
OMIM:222100 |
| Joubert Syndrome 14 |
|
Low-set ears, Optic atrophy, Prominent nasal bridge, Postaxial polydactyly, Renal cyst, Coloboma,... |
OMIM:614424 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Pigmentary retinopathy, Rocker bottom foot, Peters anomaly,... |
OMIM:612582 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Phace Syndrome |
|
Retinal vascular malformation, Cataract, Ectopic thyroid, Heterochromia iridis, Microphthalmia, S... |
ORPHA:42775 |
| Ring Chromosome 10 Syndrome |
|
Micrognathia, Renal hypoplasia/aplasia, Short neck, Microphthalmia, Pectus excavatum |
ORPHA:1438 |
| Merrf |
|
Optic atrophy |
ORPHA:551 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Pyknoachondrogenesis |
|
Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bone, Short long bone,... |
ORPHA:3003 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Low-set ears, Micrognathia, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Intenti... |
OMIM:618381 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Absent brainstem auditory responses, Prelingual sensorineural heari... |
OMIM:616515 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Cataract, Self-injurious behavior, Hearing impairment, Renal ... |
ORPHA:488618 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased testicular size, Panhypopituitarism, Micropenis, Mandibular prognathia, Retinal dystrop... |
OMIM:300953 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Wide nasal bridge, Cupped ear, Ocular albinism, Absent radius, Micrognathia, Hearing abnormality,... |
ORPHA:1352 |
| Hyperostosis Cranialis Interna |
|
Optic atrophy, Abnormal vestibular function, Anosmia, Sensorineural hearing impairment, Tinnitus,... |
OMIM:144755 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Exercise-induced myoglobinuria, Hyperlordosis, Achilles tendon contractur... |
OMIM:607155 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Abnormali... |
ORPHA:2916 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Patent ductus arteriosus, Glycosuria, Umbilical hernia |
OMIM:600001 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Sensorineural hearing impairment, Shoulder girdle muscle weakness, Small earlobe, Subcapsular cat... |
ORPHA:98907 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Umbilical hernia, Pye... |
OMIM:301068 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Microphthalmia, Optic disc pallor, Posteriorly rotated ears, Short nose |
OMIM:300887 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Rhizomelia, Micrognathia, Microphthalmia, Short foot, Short palm |
ORPHA:163966 |
| Wolf-Hirschhorn Syndrome |
|
Hearing impairment, Megalocornea, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovar... |
ORPHA:280 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Low-set ears, Cataract, Toe syndactyly, Cryptorchidism, Sensorineural hearing impairment, Cone-sh... |
OMIM:618958 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
| Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Peters anomaly, Bilateral cryptorchidism, Prominent nasal bridge, Sensorineural hea... |
OMIM:618652 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Dystonia, Choreo... |
OMIM:614932 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Broad hallux, Anteverted nares, Aplasia of the vagina, Postaxial polyd... |
ORPHA:457284 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| 3Q29 Microdeletion Syndrome |
|
Low-set ears, Cataract, Horseshoe kidney, Prominent nasal bridge, Aggressive behavior, Attention ... |
ORPHA:65286 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Hip contracture, Patent foramen ovale, Bicuspid ao... |
OMIM:617137 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Low-set ears, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand, Bilat... |
OMIM:607597 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
| Joubert Syndrome 1 |
|
Nephropathy, Low-set ears, Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Chorior... |
OMIM:213300 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis, Umbilical hernia |
ORPHA:3079 |
| Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Hypsarrhythmia, Iris coloboma |
OMIM:618012 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal burst... |
OMIM:618718 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract, Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Camptodac... |
ORPHA:2848 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Vertebral segmentation defect, Missing ribs, Renal hypoplasia/aplasia, Overr... |
ORPHA:3186 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Depressed nasal bridge, Optic nerve hypoplasia |
OMIM:619582 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Micrognathia, Cryptorchidism, ... |
ORPHA:3472 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Persistent open anterior fontanelle, Micrognathia, Microp... |
OMIM:620601 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Narp Syndrome |
|
Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Irritability, Rod-cone dystro... |
ORPHA:644 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Wide nasal bridge, Keratitis, Recurrent otitis media, Anteverted nares, Micrognathia, Corneal opa... |
OMIM:602562 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Hearing impairment, Retrognathia, Overhanging nasal tip, Vesicoureteral reflux, Polydac... |
OMIM:619869 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
| Fabry Disease |
|
Nephropathy, Optic atrophy, Cataract, Hearing impairment, Vertigo, Anorexia, Abnormal femur morph... |
ORPHA:324 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Missing ribs, Talipes equinovarus, Coronal hypospadias, Clinodactyly of... |
OMIM:619859 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Genu valgum, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypos... |
ORPHA:1381 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Umbilical hernia |
ORPHA:2496 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Anteverted nares, Postaxial... |
OMIM:616362 |
| Pallister-Hall Syndrome |
|
Small scrotum, Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Natal tooth... |
ORPHA:672 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly |
OMIM:235750 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid proc... |
OMIM:305400 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Hearing impairment, 3-Methylglutaconic aciduria |
ORPHA:67048 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... |
OMIM:154400 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nasal bridge, Optic atrophy, Recurrent upper respiratory tract infections, Otosclerosis, Con... |
ORPHA:217085 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... |
ORPHA:3339 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... |
OMIM:301111 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Small scrotum, Hearing impairment, Short toe, Hypogonadism, Decreased testicular size, ... |
ORPHA:127 |
| Frontorhiny |
|
Cataract, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Hypopituitaris... |
ORPHA:391474 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in upper limbs, Hand tremor, Hand muscle weakness, Decreased nerve condu... |
ORPHA:101085 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
| Baller-Gerold Syndrome |
|
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux |
ORPHA:1225 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... |
ORPHA:3109 |
| De Barsy Syndrome |
|
Low-set ears, Cataract, Abnormal fundus fluorescein angiography, Congenital hip dislocation, Dela... |
ORPHA:2962 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Abnormal optic nerve morphology, Tremor, Macular dystrophy, Aplasia/Hypoplasia of ... |
ORPHA:33445 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Broad nasal tip, Microretrognathia, Low-set, posteriorly rotated ears, Prominent n... |
ORPHA:457193 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Single transverse palmar crease, Sensorineural hearing impairment, Opisthotonus, T... |
OMIM:220120 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, Stereotypical ha... |
OMIM:614104 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Developmental glaucoma |
OMIM:610199 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hearing impairment, Corneal scarring, Attenuation of retinal blood vessels, Renal ... |
OMIM:610965 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Hypospadias |
ORPHA:314679 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Optic atrophy, Depressed nasal ridge, Abnormality of the male genitalia,... |
ORPHA:847 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Broad nasal tip, Abnormally large globe, Hearing impairment, Retinal coloboma,... |
OMIM:300749 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias |
OMIM:300661 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Hearing impairment, Vitreoretinopathy, Delayed pubic bone ossification, Limited elbow movement, T... |
OMIM:183900 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
| Zaki Syndrome |
|
Hydronephrosis, Patent ductus arteriosus, Renal agenesis |
OMIM:619648 |
| Trisomy 20P |
|
Umbilical hernia, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Spina bifida, ... |
ORPHA:261318 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... |
OMIM:620186 |
| Andersen-Tawil Syndrome |
|
Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Neurogenic bladder, Macular degeneration, Dysphagia |
OMIM:619780 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Microcornea, Clitoral hypertrophy, Abnormal optic nerve morphology, Retrognathia, ... |
ORPHA:2707 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nasal bridge, Optic atrophy, Recurrent upper respiratory tract infections, Otosclerosis, Con... |
ORPHA:217093 |
| Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Abnormal female external genitalia m... |
ORPHA:235 |
| Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Depression, Sensory axonal neuropathy, Optic neuritis, Ptosis, Abnormal retinal mo... |
ORPHA:254886 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Microphthalmia |
OMIM:614830 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus after premature birth |
OMIM:620454 |
| Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Optic atrophy, Elbow flexion contracture, Death in infancy |
OMIM:619303 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win... |
OMIM:609945 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria |
ORPHA:445038 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hearing impairment, Microphthalmia |
ORPHA:858 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Hearing impairment, Narrow nasal bridge, Protruding ear, Keratoconjunctivi... |
ORPHA:1806 |
| Sclerosteosis |
|
Ptosis, Optic atrophy, Facial palsy |
ORPHA:3152 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Anosmia, Depressed nasal bridge, Short distal phalanx of finger, Hearing impairment, Hy... |
OMIM:302950 |
| Mucopolysaccharidosis, Type Iva |
|
Hypoplasia of the odontoid process, Genu valgum, Short neck, Hepatomegaly, Anterior beaking of lu... |
OMIM:253000 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... |
OMIM:602196 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Urinary incontin... |
ORPHA:268882 |
| Optic Atrophy 14 |
|
Optic disc pallor |
OMIM:620550 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Emotional lability |
OMIM:613672 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Ptosis, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Ane... |
OMIM:612284 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Cryptorchidism, Hypogonadotropic hypogonadism, Dystonia, Athetosis |
OMIM:619310 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363958 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Hearing impairment, Hand tremor, Head tremor, Urinary incontinence, Infertility |
OMIM:614409 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Cherry red spot of the macula, Flared iliac wing, Dystonia, Opacification... |
OMIM:230650 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Short palpebral fissure, Bilateral ptosis, Upslanted palpebral fissure, Ep... |
ORPHA:352490 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:617201 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Cataract, Multicystic kidney dysplasia, Depressed nasal bridge, Bifid scrotum, Ante... |
OMIM:257300 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Micrognathia, Splenomegaly, Hydronephrosis, Short neck, Neurogenic... |
OMIM:608779 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... |
OMIM:117650 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge... |
ORPHA:83617 |
| Kahrizi Syndrome |
|
Wide nasal bridge, Cataract, Iris coloboma, Bulbous nose |
OMIM:612713 |
| Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Underdeveloped nasal alae, Finger clinodact... |
OMIM:272440 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Megalocornea, Polycystic ovaries, Renal cyst, Corneal opacity, Congenital aphakia,... |
ORPHA:137675 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Small hand, Narrow nasal bridge, Talipes equinovarus, Convex nasal ridge, Overhanging n... |
ORPHA:85172 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Situs inversus totalis, Microphthalmia, Flexion contracture, Optic nerve hypoplasia |
OMIM:614833 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity, Nasolacrimal duct... |
ORPHA:440727 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Mucopolysaccharidosis Type 4 |
|
Carious teeth, Abnormal epiphysis morphology, Hearing impairment, Abnormal dental enamel morpholo... |
ORPHA:582 |
| Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe syndactyly, Finger syndacty... |
ORPHA:2308 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Hyporeflexia of upper limbs, Hearing impairment, Multifocal epileptiform discharge... |
OMIM:609056 |
| Peters-Plus Syndrome |
|
Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Cryptorchidism, Limited elbow... |
OMIM:261540 |
| Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Microphthalmia, Hip dislocation... |
OMIM:164200 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cubitus valgus |
ORPHA:1875 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Patent ductus arteriosus, Umbilical hernia |
ORPHA:2255 |
| Dural Sinus Malformation |
|
Chemosis, Ear pain, Papilledema, Ocular hypertension, Pulsatile tinnitus |
ORPHA:97339 |
| Neuroocular Syndrome 1 |
|
Low-set ears, Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Brushfield spots, Iris colo... |
OMIM:619539 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Small hand, Resting tremor, Bruxism, Micrognathia, Tremor, Juvenile cataract, ... |
OMIM:300055 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Atrioventricular canal defect, Genu valgum, Short h... |
OMIM:600373 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process |
OMIM:612913 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Hypospadias, Cryptorchidism, Polydactyly |
OMIM:616910 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Nephronophthisis, Hypogonadism, Stage 5 chronic kidney disease, Hypoplasia ... |
OMIM:616629 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia, Thoracolumbar scoliosis, Spinal canal stenosis |
ORPHA:35125 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Absent tragus, Choanal atresia, Conductive hearing impairment, Atresia of the external ... |
OMIM:603457 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Phelan-Mcdermid Syndrome |
|
Micrognathia, Vesicoureteral reflux, Ventricular septal defect, Joint hypermobility, Abnormality ... |
OMIM:606232 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Pigmentary retinopathy, Nephrocalcinosis, Male hypogonadism, Cholelithiasis, Tympanoscl... |
OMIM:240300 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... |
OMIM:615220 |
| Camptobrachydactyly |
|
Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture... |
OMIM:114150 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Retrognathia, Prominent fingertip pads, Micrognathia, Astigmatism, Dystonia, Abnor... |
OMIM:616875 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Cataract, Megalocornea, Micrognathia, Hypoplasia of the retina, Retinal degenerati... |
OMIM:253280 |
| Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:3138 |
| Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux |
ORPHA:93260 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect... |
OMIM:308205 |
| Van Maldergem Syndrome 1 |
|
Renal hypoplasia, Hypospadias |
OMIM:601390 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| Fanconi Anemia, Complementation Group L |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Wide nasal bridge, Absent thumb, Absen... |
OMIM:614083 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor |
OMIM:618776 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Abnormal retinal nerve ... |
ORPHA:1215 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... |
ORPHA:98915 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... |
ORPHA:3098 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
| Adnp Syndrome |
|
Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Cryptorchidism, Polyphagia, Abnormal finger... |
ORPHA:404448 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy |
OMIM:617820 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... |
ORPHA:2237 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... |
ORPHA:137599 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Abnormal joint morphology, ... |
DECIPHER:81 |
| Alpha-Mannosidosis, Infantile Form |
|
Cataract, Depressed nasal bridge, Bilateral coxa valga, Oligosacchariduria, Recurrent urinary tra... |
ORPHA:309282 |
| White Forelock With Malformations |
|
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Atrial septal defect, Abnorma... |
ORPHA:2475 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Underdeveloped tragus, Cryptorchidism, Anophthalmia, Anterior pitui... |
OMIM:610829 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp, Ovarian cyst |
OMIM:175200 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Horseshoe kidney, Hyperphosphaturia, Coloboma, Abnormal finger morphology, Co... |
OMIM:163200 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Abnormality of retinal pigmentation, Juvenile cataract, Abnormality of the ... |
ORPHA:1264 |
| Restrictive Dermopathy 1 |
|
Hydropic placenta, Short umbilical cord, Ureteral duplication, Hypospadias, Patent ductus arteriosus |
OMIM:275210 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Optic atrophy, Retrognathia, Prominent fingertip pads, Micrognathia, Astigmatism, EEG abnormality... |
ORPHA:480898 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bo... |
OMIM:184250 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Optic atrophy, Retrognathia, Clinodactyly, Prominent nose, Prominent nasal bridge, Astigmatism, D... |
OMIM:619576 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Dysphagia, Leber optic atrophy |
OMIM:500001 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Multicystic kidney dysplasia, Depressed nasal ridge, Hearing impairment, Low-set, poste... |
ORPHA:1052 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu valgum, Axenfeld anomaly,... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Axenfeld anomaly, Cryptorchidi... |
ORPHA:2152 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy |
OMIM:620314 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
| Flynn-Aird Syndrome |
|
Cataract, Carious teeth, Progressive sensorineural hearing impairment, EEG abnormality, Rod-cone ... |
ORPHA:2047 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:613751 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept... |
OMIM:613404 |
| Monosomy 13Q14 |
|
Low-set ears, Cataract, Wide nasal bridge, Finger syndactyly, Micrognathia, Prominent nasal bridg... |
ORPHA:1587 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Developmental And Epileptic Encephalopathy 48 |
|
Long palpebral fissure, Optic disc pallor, Long eyelashes, Rod-cone dystrophy |
OMIM:617276 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:606612 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| Floating-Harbor Syndrome |
|
Dilatation of the renal pelvis, Short neck, Atrial septal defect, Dislocated radial head, Polycys... |
ORPHA:2044 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Small hand, Camptodactyly of finger, Joint hypermobility, Abnormality of the cer... |
ORPHA:915 |
| Cranioectodermal Dysplasia 2 |
|
Narrow chest, Rhizomelia, Micrognathia, Renal insufficiency, Horizontal ribs, Patent foramen oval... |
OMIM:613610 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... |
ORPHA:2473 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Optic atrophy, Facial palsy, Hearing impairment |
ORPHA:178377 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ventricul... |
OMIM:610832 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:617207 |
| Neurofibromatosis Type 1 |
|
Precocious puberty, Cataract, Hearing impairment, Chorioretinal coloboma, Slender long bone, Pheo... |
ORPHA:636 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Apert Syndrome |
|
Optic atrophy, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Delayed... |
ORPHA:87 |
| Eec Syndrome |
|
Carious teeth, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Sensorineural hearing... |
ORPHA:1896 |
| Hsd10 Disease |
|
Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Hearing impairment, Tremor, Abnormal urina... |
ORPHA:391417 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Mucopolysacchariduria, Corn... |
ORPHA:93474 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Femoral bowing, Micrognathia, T... |
ORPHA:140 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Delayed menarche, Tremor, Dystonia |
ORPHA:330050 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2636 |
| Kabuki Syndrome |
|
Small hand, Cryptorchidism, Renal hypoplasia/aplasia, Sensorineural hearing impairment, Duplicate... |
ORPHA:2322 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Macular degeneration, Intention tremor, Tortuosity of conjunctival vessels |
ORPHA:284289 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Macular degeneration, Short toe, Cherry red spot of... |
ORPHA:333 |
| Jaberi-Elahi Syndrome |
|
Low-set ears, Optic atrophy, Cataract, Depressed nasal bridge, Hand clenching, Tremor, Protruding... |
OMIM:617988 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Tarp Syndrome |
|
Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Abnormal antih... |
ORPHA:2886 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Low-set ears, Short distal phalanx of finger, Broad columella, Hypoautofluorescent retinal lesion... |
OMIM:250410 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Short distal phalanx of finger, Narrow chest, Rhizomelia, Renal magnesium... |
OMIM:218330 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Dystonia, Hearing impairment, Neonatal death |
OMIM:618237 |
| Teebi Hypertelorism Syndrome 1 |
|
Small hand, Ventricular septal defect, Atrial septal defect, Omphalocele, Broad palm |
OMIM:145420 |
| Baller-Gerold Syndrome |
|
Low-set ears, Carpal synostosis, Micrognathia, Patellar aplasia, Perineal fistula, Limited elbow ... |
OMIM:218600 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Polydipsia, Cryptorchidism, Sensorineural hearing impairment, Anterior pituitary hypopla... |
ORPHA:3157 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca |
OMIM:618479 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
| Restrictive Dermopathy |
|
Small placenta, Large placenta, Short umbilical cord, Ureteral duplication, Hypospadias, Patent d... |
ORPHA:1662 |
| Pilarowski-Bjornsson Syndrome |
|
Downslanted palpebral fissures, Long eyelashes, Almond-shaped palpebral fissure, Broad eyebrow, M... |
OMIM:617682 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Keratoconus, Palmoplantar keratoderma, Sensorineural hearing impairment |
OMIM:242150 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Preaxial foot polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:614120 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Severe temper tantrums, Attention deficit hyperactivity disorder, Optic nerve hypoplasia |
OMIM:614306 |
| Distal Monosomy 7Q36 |
|
Optic atrophy, Bulbous nose, Micrognathia, Cryptorchidism, Bilateral single transverse palmar cre... |
ORPHA:1636 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Hypomelanosis Of Ito |
|
Cataract, Clinodactyly, Radial deviation of finger, Hand polydactyly, Iris coloboma, Syndactyly |
OMIM:300337 |
| Chromosome Xq25 Duplication Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Thick eyebrow, Epicanthus, Hyperactivity |
OMIM:300979 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypsarrhythmia, Optic nerve hypoplasia |
OMIM:618890 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hydronephrosis, Hypospadi... |
OMIM:265380 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Beaking of vertebra... |
OMIM:150250 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
| Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Wide nasal bridge, Self-injurious behavior, Bulbous nose, Vesicoureteral reflux, As... |
OMIM:613174 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Sensory axonal neuropathy, Hand tremor, Hand muscle weakness, Postural tremor, Res... |
ORPHA:99947 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Short finger, Decreased response to growth hormone stimulation test, Polyd... |
OMIM:182230 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Cataract, Microcornea, Toe syndactyly, Congenital hip dislocation, Hearing impa... |
ORPHA:217346 |
| Legius Syndrome |
|
Cataract, Hearing impairment, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastom... |
ORPHA:137605 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Renal agenesis, Micromelia, ... |
ORPHA:3015 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Crumpled ear, Hearing impairment, Clinodactyly, Motor stereotypy, Self-injurious behavior, Sympha... |
OMIM:620494 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Muckle-Wells Syndrome |
|
Nephropathy, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Progressive sensorineural hear... |
ORPHA:575 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
| Muscle-Eye-Brain Disease |
|
Optic atrophy, EEG abnormality, Cataract |
ORPHA:588 |
| Van Maldergem Syndrome 2 |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:615546 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Micrognathia, Joint hypermobil... |
ORPHA:2097 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Optic atrophy, Camptodactyly of finger, Micrognathia, Death in infancy, Protruding ear, Short nose |
ORPHA:1495 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Atrial septal defect, Omphalocele, Ventricular septal defect |
OMIM:601927 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Thick eyebrow, Motor stereotypy, Almond-shaped palpebral fissure, Downslanted palpebral fissures |
ORPHA:529965 |
| Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Macrodontia of permanent maxillary central incisor, De... |
ORPHA:444072 |
| Optic Atrophy 5 |
|
Optic atrophy, Optic disc pallor |
OMIM:610708 |
| Diencephalic Syndrome |
|
Large hands, Optic atrophy, Long penis, Macrotia |
ORPHA:1672 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Absent radius, Oligodactyly, Hypoplastic iliac w... |
OMIM:263650 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Cataract, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity,... |
ORPHA:88628 |
| Atelosteogenesis Type I |
|
Platyspondyly, Narrow chest, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Absent or minima... |
ORPHA:1190 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
| Lateral Meningocele Syndrome |
|
Sclerosis of skull base, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Ventricul... |
OMIM:130720 |
| Elsahy-Waters Syndrome |
|
Low-set ears, Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, ... |
OMIM:211380 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Cryptorchidism, Arachnodactyly, Ta... |
ORPHA:567 |
| Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Patent d... |
ORPHA:391641 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Dysphagia, Motor stereotypy, Hip dislocation, Optic nerve hypoplasia |
ORPHA:572013 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Low-set ears, Choanal atresia, Cupped ear, Hearing impairment, Optic disc coloboma, Retrognathia,... |
ORPHA:52055 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth,... |
ORPHA:93325 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Small scrotum, Anosmia, Decreased testicular size, Azoospermia, Crypto... |
OMIM:308700 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ... |
OMIM:259770 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Bullet-shaped middle phalanges of the hand, Atrial septal defect, Dysp... |
OMIM:602535 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Alg8-Cdg |
|
Low-set ears, Optic atrophy, Cataract, Retinopathy, Talipes equinovarus, Brachydactyly, Camptodac... |
ORPHA:79325 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Abnormal dental enamel mo... |
ORPHA:10 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Low-set ears, Choanal atresia, Cupped ear, Retrognathia, Optic disc coloboma, Bilateral cryptorch... |
OMIM:300472 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Low-set ears, Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Flared metaph... |
OMIM:610758 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... |
ORPHA:2307 |
| Hallermann-Streiff Syndrome |
|
Small hand, Rib exostoses, Micrognathia, Cryptorchidism, Short ribs, Hypothyroidism, Clinodactyly... |
ORPHA:2108 |
| Gand Syndrome |
|
Inappropriate laughter, Hyperactivity, Blepharophimosis, Narrow palpebral fissure, Tics |
OMIM:615074 |
| Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
| Doors Syndrome |
|
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Adrenal hyperplasia, Aplas... |
ORPHA:79500 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:619562 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Decreased testicular size, Optic nerve dysplasia, Hydronephrosis, M... |
OMIM:615287 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral axonal neuropathy, Absent b... |
OMIM:617519 |
| Rodrigues Blindness |
|
Microcornea, Narrow nasal bridge, Protruding ear, Microphthalmia, Sclerocornea |
OMIM:268320 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... |
ORPHA:228308 |
| Trigonocephaly 1 |
|
Omphalocele |
OMIM:190440 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Iris coloboma, Chorioretinal coloboma, Bulbous nose, Sensorineural hearing impairm... |
OMIM:615219 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Cupped ear, C... |
OMIM:167730 |
| Alagille Syndrome 1 |
|
Low-set ears, Axenfeld anomaly, Posterior embryotoxon, Duplicated collecting system, Long nose, R... |
OMIM:118450 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatomegaly, Myoglobinuria, Ren... |
ORPHA:157 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Narrow chest, Uterus didelphys, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Mic... |
ORPHA:93271 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal de... |
OMIM:236680 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Congenital contracture, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Knee flexion c... |
OMIM:616266 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| 3Mc Syndrome 1 |
|
Short 5th finger, Caudal appendage, Diastasis recti, Ventricular septal defect, Spina bifida occu... |
OMIM:257920 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Penile freckling, Thyroid carcinoma, Foot polydactyly, Hurthle cell th... |
ORPHA:210548 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration |
OMIM:601369 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... |
OMIM:268310 |
| Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Failure to thrive, Motor stereotypy, Dysphagia, Macrotia |
DECIPHER:45 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Abnormal external genitalia, Polydactyly |
ORPHA:231140 |
| Miller-Dieker Lissencephaly Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of tee... |
OMIM:247200 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Micrognathia, Cryptorchidi... |
OMIM:180849 |
| Joubert Syndrome 9 |
|
Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy |
OMIM:612285 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Low-set ears, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Cryptorchid... |
OMIM:615419 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Renal cyst, Dark urine |
ORPHA:79303 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Wide nasal bridge, Cupped ear, Clinodactyly, Supernumerary nipple, Bulbous nose, EEG with spike-w... |
ORPHA:247262 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Cryptorchidism, Stereotypical hand wringing, Compulsive behaviors, Motor... |
OMIM:618917 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Optic atrophy, Downslanted palpebral fissures, Irritability, Peripheral axonal neuropathy, Dysphagia |
OMIM:615809 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Papilledem... |
OMIM:127000 |
| Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Cryptorchidism, Testicular neoplasm, Palmar hyperlinearity, Opacificati... |
OMIM:308100 |
| 19P13.13 Microdeletion Syndrome |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Clinodactyly, Sandal gap, Macrotia, Antevert... |
ORPHA:357001 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Abnormal cardiac septum morphology, Microphthalmia, Omphalocele,... |
ORPHA:2166 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Hydroureter |
OMIM:620450 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Bruxism, Decreased body weight, Protruding ear, Sensorineural hearing impairment, A... |
OMIM:618342 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Polycystic ovaries, Cone/cone-rod dystrophy, Polypha... |
ORPHA:64 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureteral stenosis |
OMIM:272950 |
| Tbck-Related Intellectual Disability Syndrome |
|
Wide nasal bridge, EEG with generalized epileptiform discharges, Clinodactyly, Decreased response... |
ORPHA:488632 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Knee flexion contracture, Ventricular septal defect, ... |
ORPHA:435638 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck, Increased urina... |
OMIM:271630 |
| Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Enlar... |
OMIM:268300 |
| Developmental And Epileptic Encephalopathy 66 |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Astigmatism, Cryptorchidis... |
OMIM:618067 |
| Pitt-Hopkins Syndrome |
|
Flared nostrils, Small hand, Clinodactyly, Supernumerary nipple, Overlapping toe, Cryptorchidism,... |
OMIM:610954 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Atrial septal defect, Meso... |
ORPHA:97360 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact... |
ORPHA:3258 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... |
ORPHA:275864 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Optic atrophy, Cataract, Keratitis, Hearing impairment, Pterygium, Decreased testi... |
ORPHA:910 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Emotional lability |
ORPHA:254343 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy |
OMIM:258501 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Abnormality of the urinary system, Pseudobulbar paralysis, Premature ovarian insufficie... |
ORPHA:101006 |
| Werner Syndrome |
|
Cataract, Small hand, Rocker bottom foot, Hypogonadism, Decreased fertility, Abnormality of retin... |
ORPHA:902 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Optic atrophy, Thick eyebrow, Upslanted palpebral fissure, Synophrys |
OMIM:618737 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairme... |
ORPHA:436174 |
| Johanson-Blizzard Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Hypospadias |
ORPHA:2315 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Optic atrophy, Abnormally large globe, Overlapping toe, Cryptorchidism, Protruding ear, Hypospadi... |
OMIM:300004 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Tremor, Sensorineural hearing impairment, Absence of acoustic reflex, Primary ... |
OMIM:619737 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... |
OMIM:208085 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Low-set ears, Cataract, Flared nostrils, Retrognathia, Decreased response to growth hormone stimu... |
ORPHA:280679 |
| Mody |
|
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney |
ORPHA:552 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media,... |
ORPHA:3455 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Ab... |
ORPHA:1486 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Pectus carinatum, Hypertrophic cardiomyopathy, Complete atrioventricul... |
OMIM:151100 |
| Acrocephalopolydactylous Dysplasia |
|
Micromelia, Short neck, Hepatomegaly, Craniosynostosis, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Small hand, Micrognathia, Genu valgum, Sensorineural hearing impairment, Cubitus va... |
ORPHA:300570 |
| Alg9-Cdg |
|
Rhizomelia, Hypoplasia of the bladder, Microretrognathia, Delayed cranial suture closure, Abnorma... |
ORPHA:79328 |
| Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Large placenta, Omphal... |
ORPHA:254519 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Microcornea, Hypoplasia of the maxilla, Mandibular prognathia, Hearing impairm... |
OMIM:601499 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Cryptorchidism, Sensorineura... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Cryptorchidism, Sensorineura... |
ORPHA:353277 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Ptosis, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy |
OMIM:610743 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Duplicated collecting system |
ORPHA:541423 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Joint contracture of the hand, Straight clavicles, Broad ribs, Fibular ap... |
OMIM:300373 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Cataract, Decreased fertility, Primary amenorrhea, Increased... |
ORPHA:2410 |
| ERI1-related disease |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:608739 |
| Visceral Myopathy 1 |
|
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Retrognathia, Hypogonadism, Death in infancy, Protruding ear, Keratoconjun... |
OMIM:601675 |
| Spastic Paraplegia Type 7 |
|
Optic disc pallor, Attention deficit hyperactivity disorder, Optic atrophy, Dysphagia |
ORPHA:99013 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Patent foramen ovale, Joint... |
OMIM:619184 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... |
OMIM:177170 |
| Friedreich Ataxia |
|
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Sensory axonal neur... |
ORPHA:95 |
| Carpenter Syndrome 2 |
|
Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar... |
OMIM:614976 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Optic atrophy, Organic aciduria, Sensorineural hearing impairment, Aggressive behavior, Split han... |
OMIM:614707 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Te... |
OMIM:308750 |
| Hartsfield Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia |
ORPHA:2117 |
| Peroxisome Biogenesis Disorder 9B |
|
Cataract, Anosmia, Sensorineural hearing impairment, Total anosmia, Rod-cone dystrophy |
OMIM:614879 |
| Retinitis Pigmentosa 51 |
|
Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio... |
OMIM:613464 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Upslanted palpebral fissure, Stereotypical hand w... |
OMIM:600430 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Cryptorchidism, Talipes equino... |
OMIM:611209 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Optic atrophy, Dysphagia, Peripheral axonal neuropathy |
OMIM:619686 |
| Treacher-Collins Syndrome |
|
Small scrotum, Micrognathia, Cryptorchidism, Microphthalmia, Abnormality of the middle ear, Recto... |
ORPHA:861 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Anteverted nares, Micrognat... |
OMIM:619135 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Sensory axonal neuropathy, Hearing impairment, Decreased number of large periphera... |
OMIM:271245 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Small scrotum, Toe syndactyly, Finger syndactyly, Bifid scrotum, Micrognathia, Cryptorchidism, Hy... |
ORPHA:1300 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy, Cholelithiasis, Hypogonadism, Tremor |
ORPHA:79095 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Decreased motor nerve conduction velocity, Hand tremor, Sensorineural hearing impairmen... |
OMIM:162400 |
| Achondrogenesis Type 1B |
|
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Micromelia, Micrognathia... |
ORPHA:93298 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... |
OMIM:277170 |
| Superficial Siderosis |
|
Anosmia, Partial anosmia, Functional abnormality of the bladder, Vertigo, Abnormality of the vest... |
ORPHA:247245 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Wide nasal bridge, Microcornea, Depressed nasal bridge, Cupped ear, Femal... |
OMIM:110100 |
| Nijmegen Breakage Syndrome |
|
Choanal atresia, Retinal pigment epithelial mottling, Sandal gap, Recurrent urinary tract infecti... |
OMIM:251260 |
| Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Retinal pigment epit... |
OMIM:618733 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Carpal synostosis, Genu valgum, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, S... |
OMIM:271640 |
| Sarcosinemia |
|
Optic atrophy, Emotional lability |
ORPHA:3129 |
| Shukla-Vernon Syndrome |
|
Downslanted palpebral fissures, Aggressive behavior, Attention deficit hyperactivity disorder, Mo... |
OMIM:301029 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cataract, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hearing imp... |
OMIM:301075 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Umbilical hernia, Hydronephrosis, Ectopic kidney, Spina bifida occ... |
OMIM:135900 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Atrial septal defect, Short palm, Hepatomegaly, Short foot, Hypospadia... |
OMIM:312870 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Unilateral renal agenesis, Absent thumb, Atresia of the external auditory canal, ... |
OMIM:614900 |
| Cowden Syndrome 5 |
|
Cataract, Hypoplasia of the maxilla, Hearing impairment, Goiter, Micrognathia, Angioid streaks of... |
OMIM:615108 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Low-set ears, Small scrotum, Microcornea, Carious teeth, Wide nasal bridge, Ureterocele, Depresse... |
OMIM:616734 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Atresia of the external auditory canal,... |
ORPHA:199 |
| Kinsship Syndrome |
|
Horseshoe kidney, Renal hypoplasia |
OMIM:619297 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Decreased body weight, Attention deficit hyperactivity disorder, Dysphag... |
OMIM:617695 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Omphalocele, Microphthalmia |
OMIM:248450 |
| Tatton-Brown-Rahman Syndrome |
|
Anteverted nares, Short columella, Vesicoureteral reflux, Optic nerve hypoplasia |
OMIM:615879 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides... |
OMIM:614077 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Hearing impairment, Micrognathia, Death in childhood, Microphthalm... |
OMIM:309500 |
| Alg2-Cdg |
|
Wide nasal bridge, Cataract, Hypsarrhythmia, Iris coloboma |
ORPHA:79326 |
| Microlissencephaly-Micromelia Syndrome |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, 11 pairs of ... |
ORPHA:50810 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Depressed nasal bridge, Natal tooth, Bilateral conductive hearing impairment, Myopi... |
OMIM:617802 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
| Cowden Syndrome 6 |
|
Cataract, Varicocele, Hypoplasia of the maxilla, Hearing impairment, Goiter, Micrognathia, Angioi... |
OMIM:615109 |
| Kleefstra Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... |
ORPHA:261494 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
| Blepharonasofacial Malformation Syndrome |
|
Wide nasal bridge, Optic atrophy, Hearing impairment, Underdeveloped nasal alae, Finger syndactyl... |
ORPHA:1252 |
| Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Scoliosis, Absent thumb, Microphthalmia |
OMIM:617244 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Cardiomegaly, Ovoid thoracolum... |
OMIM:252920 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Low-set, posteriorly rotated ear... |
ORPHA:59315 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... |
OMIM:616329 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hearing impairment, Prominent nose, Orthostatic hypotension, Anisocoria, Dysphagia |
OMIM:615510 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Downslanted palpebral fissures, Retinal degeneration, Attention deficit hyperactiv... |
ORPHA:442835 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Low-set ears, Optic atrophy, Depressed nasal ridge, Small hand, Conductive hearing impairment, An... |
OMIM:618672 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Radial bowing, Elbow dislocation, Megalocornea, Temporomandibular joint a... |
OMIM:164900 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung ... |
ORPHA:1765 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Rocker bottom foot, Macrotia, Avascular necrosis of the capital femoral epiphysis, L... |
ORPHA:3342 |
| Fraser Syndrome |
|
Small scrotum, Abnormality of the outer ear, Toe syndactyly, Abnormal vagina morphology, Atresia ... |
ORPHA:2052 |
| Neuraminidase Deficiency |
|
Cataract, Urinary excretion of sialylated oligosaccharides, Cherry red spot of the macula, Epiphy... |
OMIM:256550 |
| Zttk Syndrome |
|
Low-set ears, Optic atrophy, Unilateral renal agenesis, Hypoplasia of the maxilla, Wide nasal bri... |
OMIM:617140 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Aggressive behavior, Hyperactivity |
ORPHA:369939 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Zygomycosis |
|
Nephritis, Epistaxis, Nasal congestion, Retinal arterial occlusion, Renal insufficiency, Abnormal... |
ORPHA:73263 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Epicanthus, Motor stereotypy |
OMIM:618218 |
| Trichothiodystrophy |
|
Microcornea, Macular degeneration, Carious teeth, Retrognathia, Bilateral microphthalmos, Gonadal... |
ORPHA:33364 |
| Classic Galactosemia |
|
Cataract, Postural tremor, Cryptorchidism, Action tremor, Attention deficit hyperactivity disorde... |
ORPHA:79239 |
| Acrootoocular Syndrome |
|
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Abnormal earlobe morpholog... |
ORPHA:2980 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Low-set ears, Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bo... |
OMIM:255800 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Aggressive behavior, Anisocoria, Enuresis, Dysphagia |
ORPHA:289483 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Craniosynostosis, R... |
ORPHA:251004 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:85201 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Abnorma... |
ORPHA:444077 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hyperactivity |
OMIM:615516 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Resting tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervo... |
ORPHA:247234 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Long eyelashes, Ptosis, Irritability |
OMIM:619076 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Prominent antihelix, Overlapping toe, Single transverse palmar crease, Hip dysplas... |
OMIM:617807 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Postaxial polydactyly... |
OMIM:615849 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Broad nasal t... |
ORPHA:1830 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Alazami Syndrome |
|
Short palpebral fissure, Sparse eyebrow, Abnormal eating behavior, Self-mutilation, Stereotypical... |
ORPHA:319671 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system |
OMIM:617093 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy |
OMIM:600795 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Micrognathia, Astigmatism, Arachnodactyly, Convex nasal ridge, Macrotia |
OMIM:208050 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints |
OMIM:618356 |
| Crouzon Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Keratitis, Atresia of the external auditory canal, Cond... |
OMIM:123500 |
| Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Brachydactyly, Omphal... |
OMIM:616894 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Seckel Syndrome 10 |
|
Elevated circulating luteinizing hormone level, Microretrognathia, Cone-shaped epiphysis, Glycosu... |
OMIM:617253 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Disinhibition |
OMIM:612069 |
| Ogden Syndrome |
|
Congenital hip dislocation, Microretrognathia, Secundum atrial septal defect, Delayed skeletal ma... |
OMIM:300855 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Thickened ribs, Ovoid thoracol... |
OMIM:252900 |
| Mucopolysaccharidosis, Type Vii |
|
Recurrent upper respiratory tract infections, Hearing impairment, Recurrent otitis media, Heparan... |
OMIM:253220 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Recurrent urinary tract infections, Atrial septal defect, Micropht... |
OMIM:611961 |
| Spinocerebellar Ataxia With Epilepsy |
|
Ptosis, Optic atrophy, Depression, Sensory axonal neuropathy |
ORPHA:254881 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Telecanthus, Ptosis, Blepharophimosis, Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Low-set ears, Depressed nasal bridge, Microcornea, Micrognathia, Hypoplastic nipples, Long finger... |
OMIM:156610 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Attention deficit hyperactivity disorder, Rod-cone dystrophy, Optic disc ... |
ORPHA:216866 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy, Iris coloboma, Astigmatism |
OMIM:301094 |
| Short Stature-Micrognathia Syndrome |
|
Cataract, Small scrotum, Rhizomelia, Broad femoral neck, Retrognathia, Micrognathia, Astigmatism,... |
OMIM:617164 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia |
ORPHA:65288 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short thumb, Cervical C5/C6 vertebrae fusion, Tetralogy of Fallot, Micrognathia, Ventr... |
OMIM:613458 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida... |
ORPHA:2476 |
| Cystic Echinococcosis |
|
Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst |
ORPHA:400 |
| Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Cardiac fibroma, Rib fusion, Vertebral fusion, ... |
ORPHA:377 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral ptosis, Bruxism, Upslanted palpebral fissure, Epicanthus, Motor stereotypy, Synophrys |
OMIM:616351 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction |
OMIM:617557 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, M... |
OMIM:249000 |
| Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Ectopic kidney, Microphthalmia |
OMIM:606744 |
| Digeorge Syndrome |
|
Low-set ears, Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Recurrent otitis... |
OMIM:188400 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney |
ORPHA:2273 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Optic atrophy, Cryptorchidism, Sensorineural hearing impairment, Retinal degenerat... |
OMIM:249270 |
| Chromosome Xq13 Duplication Syndrome |
|
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Emotional lability, Almon... |
OMIM:301069 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Low-set ears, Cataract, Wide nasal bridge, Sensorineural hearing impairment, Hypsarrhythmia, Dyst... |
OMIM:607906 |
| Achondrogenesis Type 1A |
|
Narrow chest, Abnormal enchondral ossification, Micromelia, Micrognathia, Multiple rib fractures,... |
ORPHA:93299 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Sutur... |
OMIM:612474 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:1519 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pectus carinatum, Narrow chest, Abnormal form of the vertebral bodies, Elbow dislocat... |
ORPHA:2462 |
| Foxg1 Syndrome |
|
Optic disc hypoplasia, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter, Dysto... |
ORPHA:561854 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Highly arched eyebrow, Downslanted palpebral fissures, Obsessive-compulsive trait, Aggressive beh... |
OMIM:618825 |
| 3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Short t... |
ORPHA:2616 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mand... |
OMIM:608670 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Sensory axonal neuropathy, Progressive hearing impairment, Hypogonadism, Premature ovar... |
OMIM:609286 |
| Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Short thumb, Camptodactyly of finger, Pterygium, Joint sti... |
ORPHA:2876 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, Aggressive behavior |
ORPHA:505216 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... |
ORPHA:2729 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Cataract, Elevated circulating luteinizing hormone level, Small hand, Retrognathia,... |
OMIM:300845 |
| Lathosterolosis |
|
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Horseshoe ... |
ORPHA:46059 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Optic atrophy, Undetectable visual evoked potentials, Arm dystonia, Progressive sensorineural hea... |
OMIM:601338 |
| Steinert Myotonic Dystrophy |
|
Cholelithiasis, Posterior subcapsular cataract, Male hypogonadism, Oral-pharyngeal dysphagia, Sho... |
ORPHA:273 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Optic atrophy, Clitoral hypertrophy, Cataract, Ambiguous genitalia, EEG abnormality |
ORPHA:543470 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Cataract, Mesangial hypercellularity, Death in childhood, Nep... |
OMIM:620425 |
| Cohen Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Dec... |
OMIM:216550 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Bilateral single transver... |
ORPHA:1120 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Depression, Emotional lability, Retinal degeneration, Motor stereotypy, O... |
ORPHA:79264 |
| Hurler-Scheie Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture ... |
OMIM:607015 |
| Sotos Syndrome |
|
Renal agenesis, Umbilical hernia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junct... |
ORPHA:821 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Uplifted earl... |
OMIM:280000 |
| Monosomy 18P |
|
Micrognathia, Kyphoscoliosis, Short neck, Microphthalmia, Pectus excavatum, Enlarged thorax |
ORPHA:1598 |
| Xq12-Q13.3 Duplication Syndrome |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Bulimia, Cutaneous finger s... |
ORPHA:314389 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Macrotia, EEG with generalized slow activity, Mandibular prognathia, Exaggerated startle response... |
OMIM:617864 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Micrognat... |
ORPHA:261197 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Anterior pituitary hypopl... |
ORPHA:177907 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Dysphagia |
OMIM:618230 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Microphthalmia |
OMIM:618805 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy, Ptosis, Emotional lability |
OMIM:256000 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis |
ORPHA:3151 |
| Cardiofaciocutaneous Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Dental malocclusion, Hearing impairment, Large earlobe, Bul... |
OMIM:115150 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodies, Increased ... |
ORPHA:2769 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Optic atrophy, Long eyelashes, Aggressive behavior |
OMIM:617698 |
| Developmental And Epileptic Encephalopathy 89 |
|
Narrow chest, Neonatal death, Talipes equinovarus, Limb undergrowth, Omphalocele, Flexion contrac... |
OMIM:619124 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Iris coloboma, Hypoplasia of the ear cartilage, Broad thumb, Supernumerary nipple, Large earlobe,... |
ORPHA:1236 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Osteopenia, Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Micromelia, ... |
OMIM:613848 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis |
OMIM:617798 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bifid nasal tip, Iris coloboma, Unilateral microphthalmos, Enamel hypoplasia, Adducted thumb, Mac... |
OMIM:618874 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Polycystic kidney dysplasia, Patent ductus arteriosus |
ORPHA:84064 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology |
ORPHA:314585 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor |
OMIM:612989 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
EEG with abnormally slow frequencies, Optic atrophy, Depressed nasal bridge, Mandibular prognathi... |
OMIM:618493 |
| Autosomal Dominant Cutis Laxa |
|
Low-set ears, Unilateral renal agenesis, Pyelonephritis, Protruding ear, Bladder diverticulum, Ta... |
ORPHA:90348 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Abnormal rib morphology |
ORPHA:93941 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Death in infancy, Sensorineural hearing impa... |
ORPHA:2971 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Supernumerary nipple, Hypogonadism, Decreased fertility, Abnormality of retinal pi... |
ORPHA:1173 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Low-set ears, Cataract, Epiphyseal stippling, Death in infancy, Talipes equinovarus, Posteriorly ... |
OMIM:614872 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... |
OMIM:219730 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megac... |
OMIM:609136 |
| Cerebral Visual Impairment |
|
Optic atrophy, Attention deficit hyperactivity disorder, Retinopathy of prematurity, Optic disc p... |
ORPHA:447788 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma, Cryptorchidism |
ORPHA:461 |
| Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Microretrognathia, Optic nerve hypoplasia |
ORPHA:171680 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Self-injurious behavior, Decreased response to growth hormone stimulation test, Ant... |
OMIM:601853 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Inguinal hernia, Microphthalmia |
ORPHA:1135 |
| Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Depressed nasal bridge, Microcornea, Clitoral hypertrophy, Carious teeth, Congenita... |
OMIM:244450 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Atrioventricular canal d... |
OMIM:619534 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... |
OMIM:232200 |
| Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
| Congenital Syphilis |
|
Optic atrophy, Cataract, Keratitis, Hearing impairment, Hyperplasia of the maxilla, Chorioretinit... |
ORPHA:499009 |
| Developmental And Epileptic Encephalopathy 1 |
|
EEG with burst suppression, Hypsarrhythmia, Microphthalmia, Micropenis, Dystonia, Dysphagia, Chor... |
OMIM:308350 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Anophthalmia, Mi... |
OMIM:147250 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Urinary incontinence, Distal upper limb muscle weakness, Dysphagia, Optic nerve hypoplasia |
OMIM:615033 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Am... |
OMIM:300219 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Patent ductus arteriosus, Renal dysplasia |
OMIM:617260 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Wide nasal bridge, Broad nasal tip, Conductive hearing impairment, Abnormal optic nerve morpholog... |
ORPHA:352665 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Broad nasal tip, Conductive hearing impairment, Abnormal optic nerve morpholog... |
ORPHA:453504 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Small hand, Carious teeth, Genu valgum, Cryptorchidism, Polyphagia, Motor stereotyp... |
OMIM:615873 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Optic disc pallor, Irritability, Cherry red spot of the macula |
OMIM:615281 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, Talipes equinovarus, Small the... |
OMIM:619148 |
| Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Athetosis, Retinal dystrophy, Sensorineural hearing impairment |
OMIM:614559 |
| Arthrogryposis, Distal, Type 2A |
|
Wide nasal bridge, Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder f... |
OMIM:193700 |
| Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Toe syndactyly, Hearing impairment, Atresia of... |
ORPHA:920 |
| Fetal Alcohol Syndrome |
|
Joint stiffness, Micrognathia, Vertebral segmentation defect, Atrial septal defect, Microphthalmia |
ORPHA:1915 |
| Myotonic Dystrophy 1 |
|
Cataract, Cholelithiasis, Hypogonadism, Facial diplegia, Obsessive-compulsive trait, Testicular a... |
OMIM:160900 |
| Alkuraya-Kucinskas Syndrome |
|
Low-set ears, Cataract, Small scrotum, Depressed nasal bridge, Hand clenching, Clinodactyly, Ante... |
OMIM:617822 |
| Cardiofaciocutaneous Syndrome |
|
Optic atrophy, Depressed nasal bridge, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone... |
ORPHA:1340 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology |
ORPHA:2145 |
| Full Schwannomatosis |
|
Cataract, Hearing impairment, Peripheral schwannoma, Schwannoma, Tinnitus, Neoplasm of the anteri... |
ORPHA:93921 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Optic atrophy, Unilateral renal agenesis, Hypoplasia of the maxilla, Wide nasal bri... |
ORPHA:500150 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Spina bifida occulta, ... |
OMIM:235510 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstructio... |
OMIM:192350 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cataract, Joint contracture of the hand, Proximal muscle weakness in upper limbs, Distal upper li... |
ORPHA:466768 |
| Revesz Syndrome |
|
Leukocoria, Exudative retinopathy, Megalocornea |
OMIM:268130 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Myopia 23, Autosomal Recessive |
|
Increased axial length of the globe |
OMIM:615431 |
| Cowden Syndrome 1 |
|
Cataract, Varicocele, Hypoplasia of the maxilla, Hearing impairment, Goiter, Micrognathia, Angioi... |
OMIM:158350 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Postaxial foot polydactyly, Broad distal... |
ORPHA:404440 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hearing impairment, Ocular albinism, Abnormal hip bone morpholog... |
ORPHA:2720 |
| Congenital Disorder Of Deglycosylation 1 |
|
Low-set ears, Small hand, Restlessness, Athetosis, Chondroitin sulfate excretion in urine, Oral-p... |
OMIM:615273 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Vestibular areflexia, Intention tremor, Sensorineural hearing impairment |
ORPHA:504476 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Congenital hypoparathy... |
ORPHA:93324 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Optic atrophy, Depressed nasal bridge, Small hand, Abnormal macular morphology, Upper limb underg... |
OMIM:608799 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:620663 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Brachydactyly, Zonular cataract, Macrotia |
ORPHA:168577 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Horizontal inferior border... |
ORPHA:239 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Low-set ears, Depressed nasal bridge, 2-3 toe cutaneous syndactyly, Micrognathia, Intention tremo... |
OMIM:620029 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Elbow flexion contracture, Micrognathia, Vesicoureteral... |
ORPHA:96149 |
| Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Kyphoscoliosis, Ovoid thoracol... |
OMIM:252930 |
| Christianson Syndrome |
|
Inappropriate laughter, Cachexia, Dysphagia, Motor stereotypy, Macrotia |
ORPHA:85278 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, Broad columella, Underdeveloped nasal alae, Supernumerary nippl... |
ORPHA:3255 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Bulimia |
OMIM:614651 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Retinoblastoma |
|
Hypopyon, Pineoblastoma, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigment... |
ORPHA:790 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy, Downslanted palpebral fissures |
OMIM:615637 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Knee flexion contracture, Ventricular septal defect, Postaxial polydactyl... |
OMIM:603387 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Abnormal clavicle morphology, Rudime... |
ORPHA:958 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hearing impairment, Abnormality of the lower urinary tract, Retinal degeneration, ... |
ORPHA:391428 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hair-pulling, Polyphagia, Prominent nasal tip, Motor stereotypy, Short nose, Self-... |
OMIM:620330 |
| Distal Deletion 17Q |
|
Optic atrophy, Small hand, Deviation of finger, Micromelia, Low-set, posteriorly rotated ears, Ab... |
ORPHA:1597 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Preaxial polydactyly, Micrognathia, Cryptorchidism, Short ribs, ... |
OMIM:615948 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Fucosidosis |
|
Mucopolysacchariduria, Hearing impairment, Corneal opacity |
ORPHA:349 |
| Peroxisome Biogenesis Disorder 10B |
|
Low-set ears, Cataract, Nephrocalcinosis, Neurogenic bladder, Posteriorly rotated ears |
OMIM:617370 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Wide nasal base, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction,... |
OMIM:601559 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Astigmatism, Titubation, Temporal optic disc pallor |
ORPHA:459056 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis |
OMIM:235255 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Recurrent upper respiratory tract infections, Congenital hip dislocation, Microgna... |
ORPHA:3078 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Multicystic kidney dysplasia, Renal agenesis, Cervical ribs, Tetralogy of Fallot... |
OMIM:164210 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Preaxial polydactyly |
ORPHA:163681 |
| Acromelic Frontonasal Dysostosis |
|
Low-set ears, Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Patellar hypoplas... |
OMIM:603671 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Cryptorchidism, Overfriendliness, Talipes equinovarus, Hypospadias, Motor stereotyp... |
OMIM:619293 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Hearing impairment, Cryptorchidism, Neonatal death, Hypsarrhythmia, Dy... |
OMIM:620024 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Shortening of all phalanges of fingers, Limb undergrowth,... |
OMIM:601356 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Depressed nasal bridge, Delayed eruption of teeth, Short toe, Short finger, Low urinary... |
OMIM:103580 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Renal hypoplasia |
OMIM:619321 |
| Mogs-Cdg |
|
Optic atrophy, Retrognathia, External genital hypoplasia, Overlapping fingers, Sensorineural hear... |
ORPHA:79330 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu... |
ORPHA:90695 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Werner Syndrome |
|
Hypogonadism, Cataract, Convex nasal ridge, Retinal degeneration |
OMIM:277700 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth, Long thorax |
OMIM:619142 |
| Zimmermann-Laband Syndrome |
|
Cataract, Overtubulated long bones, Large fleshy ears, Bulbous nose, Micrognathia, Anterior open-... |
ORPHA:3473 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Cario... |
OMIM:253200 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Micrognathia, Cryptorchidism, Single transverse palmar crease, Tremor, Aggressive behav... |
OMIM:608093 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Wide nasal bridge, Optic atrophy, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis... |
OMIM:218400 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Postaxial ... |
ORPHA:544254 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Splenomegaly, Nep... |
OMIM:232220 |
| Pseudo-Torch Syndrome 1 |
|
Low-set ears, Cataract, Microretrognathia, Anteverted nares, Renal insufficiency, Dystonia, Opaci... |
OMIM:251290 |
| Canavan Disease |
|
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Abnormal... |
ORPHA:141 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... |
ORPHA:280234 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Dystonia, Sensorineural hearing impairment |
OMIM:300475 |
| Adams-Oliver Syndrome |
|
Cataract, Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal mor... |
ORPHA:974 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Decreased body weight, Proteinuria, Paroxysmal bursts of laug... |
OMIM:618347 |
| Saethre-Chotzen Syndrome |
|
Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Crypto... |
ORPHA:794 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Menometrorrhagia, Epistaxis, Abnormal optic nerve morphology, Oc... |
ORPHA:79430 |
| Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Optic atrophy, Irritability |
OMIM:607196 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Deviation of finger, Arachnodactyly, Congenital finger flexion contractures, Bilat... |
ORPHA:1154 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Wide nasal bridge, Optic atrophy, Abnormal helix morphology, Small scrotum, Short distal phalanx ... |
ORPHA:1970 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Abnormality iris morphology, Underdeveloped nasal alae, ... |
ORPHA:250999 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment, Cherry red ... |
OMIM:256540 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Polyphagia, Paroxysmal bursts of laughter, Hypera... |
ORPHA:228402 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hyp... |
OMIM:612463 |
| Arts Syndrome |
|
Optic atrophy, Recurrent upper respiratory tract infections, Hearing impairment, Death in infancy... |
OMIM:301835 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Biventricular hypertrophy, Te... |
OMIM:618280 |
| Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Renal hypoplasia, Patent ductus arteriosus |
OMIM:620005 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Micropenis |
ORPHA:96092 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low-set ears, Cataract, Congenital hip dislocation, Cryptorchidism, Narrow nasal ridge, Talipes e... |
OMIM:219150 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect |
OMIM:614954 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... |
OMIM:166210 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Postural tremor, Death in early adulthood, Tremor, Hypogonadotropic hypogonadism, ... |
OMIM:607694 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Conductive hearing impairment, Aplasia... |
ORPHA:2095 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Epiphyseal stippling, Hip contracture, Talipes equinovarus, Hypoplasia of the nasal bone |
OMIM:118650 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:619851 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
| Cerebrotendinous Xanthomatosis |
|
Cataract, Cholelithiasis, Pseudobulbar paralysis, EEG with generalized slow activity, Delayed som... |
OMIM:213700 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Abnormality of the urinary system, Hypertrophic cardiomyopathy, Abnormal ... |
OMIM:230500 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ureterocele, Renal dysplasia, Umbilical hernia |
ORPHA:1934 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Glaucoma, Developmental glaucoma |
OMIM:614438 |
| Alzahrani-Kuwahara Syndrome |
|
Low-set ears, Cataract, Hearing impairment, Bulbous nose, Prominent nose, Micrognathia, Astigmati... |
OMIM:619268 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Cataract, Resting tremor, Head tremor, Sensorineural hearing impairment, Urinary i... |
ORPHA:314404 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hearing impairment, Chorioretinal coloboma, Peripheral demyelination, Genu valgum, Hematuria, Tal... |
OMIM:619475 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Sensorineural ... |
ORPHA:231178 |
| Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Micrognathia, Tremor, Simple ear, Prominent nasal tip, Hypsarrhythmia... |
OMIM:615574 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Depressed nasal bridge, Hemidystonia, Broad nasal tip, Recurrent otitis media,... |
OMIM:619680 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Cataract, Micromelia, Pterygium, Micrognathia, Cryptorchidism, Neonatal death,... |
OMIM:224410 |
| 2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Multicystic kidney dysplasia, Toe syndactyly, Conductive hearing impairme... |
ORPHA:1001 |
| Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hydronephrosis, Abnormal renal morphology, Micropenis |
ORPHA:1655 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Patent ductus arteriosus |
ORPHA:210122 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Recurrent otitis media, Internally rotated shoulders, Micrognathia, Cryptorchidism,... |
OMIM:619503 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Kyphosis, Micrognathia, Bowing of limbs due to multiple fractures, Biconcave vertebral... |
OMIM:259420 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Renal insufficiency |
OMIM:617478 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Downslanted palpebral fissures, Narrow palpebral fissure, Palpebral edem... |
ORPHA:397612 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy |
OMIM:613151 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Decreased calvarial ossif... |
OMIM:616229 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Bruxism, Long eyelashes, Thick ey... |
OMIM:618004 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped ca... |
OMIM:300232 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Ur... |
ORPHA:52430 |
| Vici Syndrome |
|
Low-set ears, Cataract, Depressed nasal bridge, Hypopigmentation of the fundus, Ocular albinism, ... |
OMIM:242840 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... |
ORPHA:2180 |
| Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hearing impairment |
OMIM:614885 |
| Woods Syndrome |
|
Wide nasal bridge, Optic atrophy, Supernumerary nipple, Limited elbow extension, Single transvers... |
OMIM:615236 |
| Oculoskeletodental Syndrome |
|
Wide nasal bridge, Renal agenesis, Hearing impairment, Broad columella, Elbow flexion contracture... |
OMIM:618440 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl... |
ORPHA:96148 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Tremor |
ORPHA:99014 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Metaphyseal irregularity, Metaphyseal cupping, Irregular iliac crest, ... |
ORPHA:99646 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... |
OMIM:256520 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Cataract, Iris coloboma, Wide nasal bridge, Coarse metaphyseal trabecularization, H... |
ORPHA:955 |
| Ohdo Syndrome, X-Linked |
|
Low-set ears, Small scrotum, Hearing impairment, Clinodactyly, Overlapping toe, Micrognathia, Cry... |
OMIM:300895 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism, Abnormal rib morphology |
ORPHA:280195 |
| Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Thoracic hypoplasia, Dumbbell-shaped humerus, Later... |
OMIM:211350 |
| Idiopathic Intracranial Hypertension |
|
Depression, Abnormal emotion, Papilledema |
ORPHA:238624 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Abnormal rib morph... |
ORPHA:3068 |
| Orofaciodigital Syndrome V |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Optic disc coloboma, Sandal gap, Ho... |
OMIM:174300 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Optic atrophy, Hearing impairment, Upper limb hypertonia, Urinary bladder sphincter dysfunction, ... |
OMIM:607259 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Short distal phalanx of finger, Band keratopathy, Dental malocclusion, Progressive sens... |
ORPHA:2959 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Facial paralysis, Facial diplegia, Ptosis, Dysphagia |
OMIM:613559 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Hand clenching, Anteverted nares, Micrognathia, Retinal degeneration, EEG abnormal... |
OMIM:616211 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Head titubation, Hypospadias, Intention tremor |
OMIM:618688 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Atrial septal defect, Microphthalmia |
OMIM:614526 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Motor stereotypy... |
OMIM:610883 |
| Fanconi Anemia, Complementation Group C |
|
Anterior wedging of T12, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent radi... |
OMIM:227645 |
| Pearson Syndrome |
|
Cataract, Pigmentary retinopathy, Glycosuria, Hearing impairment, Decreased response to growth ho... |
ORPHA:699 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Depressed nasal bridge, Proximal tubulopathy, Macrotia, Death in childhood, Premature ovarian ins... |
OMIM:212065 |
| Donohue Syndrome |
|
Low-set ears, Postprandial hyperglycemia, Long penis, Hyperglycemia, Hyperinsulinemia, Severe fai... |
OMIM:246200 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia |
OMIM:619981 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Small scrotum, Death in childhood, Cryptorchidism, Micropenis |
OMIM:615597 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Cholelithiasis, Azoospermia, Sensorineural hearing impairment, Spontane... |
ORPHA:2072 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... |
ORPHA:2299 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... |
OMIM:203780 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Depressed nasal bridge, Delayed eruption of teeth, Low urinary cyclic AMP response to P... |
OMIM:612462 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Bilateral talipes e... |
OMIM:619512 |
| Myhre Syndrome |
|
Platyspondyly, Aortic valve stenosis, Limitation of joint mobility, Short toe, Short finger, Broa... |
OMIM:139210 |
| 3-Methylglutaconic Aciduria, Type I |
|
Optic atrophy, 3-Methylglutaconic aciduria, Self-mutilation, Urinary incontinence, Dystonia, Athe... |
OMIM:250950 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Horseshoe kidney, Death in infancy, Tremor, Dystonia, Dysphagia, Choreoathetosis |
OMIM:617664 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Osteomalacia, Cortical nephrocalcinosis, Abnormal hip ... |
ORPHA:51608 |
| Baraitser-Winter Syndrome 2 |
|
Hearing impairment, Retrognathia, Coloboma, Microphthalmia, Abnormal pinna morphology |
OMIM:614583 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Short neck, Abnormal bone ossification, Short palm, Hepatomegaly, Pectus carinatum, D... |
ORPHA:175 |
| Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
| Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Agitation |
OMIM:617166 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ptosis, Peripheral axonal neuropathy |
ORPHA:401768 |
| Saul-Wilson Syndrome |
|
Cataract, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Wide anterior fonta... |
OMIM:618150 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus... |
OMIM:619721 |
| Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Low-set ears, Wide nasal bridge, Short distal ... |
OMIM:618580 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... |
OMIM:276820 |
| De Sanctis-Cacchione Syndrome |
|
Optic atrophy, Keratitis, Bilateral cryptorchidism, Sensorineural hearing impairment, Axonal dege... |
OMIM:278800 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Sensory axonal neuropathy, Resting tremor, Hand tremor, Sensorineural hearing impairmen... |
OMIM:157640 |
| Coffin-Siris Syndrome 6 |
|
Downslanted palpebral fissures, Epicanthus, Attention deficit hyperactivity disorder, Narrow palp... |
OMIM:617808 |
| Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
| Trisomy 10P |
|
Low-set ears, Thumb contracture, Micrognathia, Absent gallbladder, Talipes equinovarus, Abnormali... |
ORPHA:171929 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... |
ORPHA:449291 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Thick nas... |
ORPHA:583 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Self-mutilation, Micropenis, Overweight, Motor stereotypy, Macrotia |
ORPHA:457240 |
| H Syndrome |
|
Delayed skeletal maturation, Osteolysis, Hepatosplenomegaly, Micropenis, Abnormality of the kidne... |
ORPHA:168569 |
| Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Hearing impairment, Atresia of the external auditory canal, Overlapping toe, Cryp... |
OMIM:601808 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Abnorma... |
ORPHA:93262 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Omphalocele... |
OMIM:313850 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... |
OMIM:600002 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Autonomic bladder dysfunction, Postural tremor, Hypogon... |
ORPHA:447896 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Low-set ears, Undetectable visual evoked potentials, Underdeveloped nasal alae, Macular coloboma,... |
ORPHA:423479 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elb... |
ORPHA:1507 |
| Myoclonic-Astatic Epilepsy |
|
Wide nasal bridge, EEG with irregular generalized spike and wave complexes, Thick nasal alae, Ant... |
ORPHA:1942 |
| Gabriele-De Vries Syndrome |
|
Low-set ears, Sandal gap, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimula... |
ORPHA:506358 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Low-set ears, Hand clenching, Elbow dislocation, Cryptorchidism, Arachnodactyly, Optic disc pallo... |
OMIM:620083 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma |
OMIM:193300 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Congenital hypoparathyroidism, Long clavicles, Short fo... |
OMIM:244460 |
| Primary Pulmonary Hypoplasia |
|
Ureteral stenosis |
ORPHA:2257 |
| Arthrogryposis Multiplex Congenita 5 |
|
Elbow flexion contracture, 11 pairs of ribs, Medullary nephrocalcinosis, Micrognathia, Kyphoscoli... |
OMIM:618947 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hydronephrosis, Branchial anomaly, Abnormal bladder morphology, Vesicoureteral reflux |
ORPHA:453499 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cataract, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductiv... |
ORPHA:306542 |
| Leigh Syndrome |
|
Optic atrophy, Generalized aminoaciduria, Cataract, Sensory axonal neuropathy, Methylmalonic acid... |
ORPHA:506 |
| Congenital Tufting Enteropathy |
|
Cataract, Choanal atresia, Optic disc coloboma, Punctate keratitis, Corneal erosion |
ORPHA:92050 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous genitalia, female |
OMIM:606408 |
| Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Renal hypoplasia, Narrow chest, Absent... |
OMIM:105650 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, ... |
OMIM:607371 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Ketotic hypoglycemia |
ORPHA:2089 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Low-set ears, Cataract, Small scrotum, Depressed nasal bridge, Hearing impairment, Finger clinoda... |
OMIM:601353 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Wide nasal bridge, Depressed nasal bridge, Shallow acetabular... |
OMIM:242900 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Overfolded helix, Motor stereotypy, Large fleshy ears |
OMIM:619092 |
| Hypophosphatasia |
|
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology |
ORPHA:436 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... |
OMIM:616307 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Sensorineural hearing impairment, Keratoconjunct... |
OMIM:278730 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Generali... |
OMIM:617952 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Scoliosis, Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Colonic Atresia |
|
Gastroschisis, Omphalocele |
ORPHA:1198 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Tetraamelia Syndrome 1 |
|
Low-set ears, Cataract, Absent external genitalia, Choanal atresia, Renal agenesis, Micrognathia,... |
OMIM:273395 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Shawl scrotum |
ORPHA:85277 |
| Occipital Horn Syndrome |
|
Hydronephrosis, Ureteral obstruction, Bladder diverticulum |
OMIM:304150 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Congenital diaphragmatic hernia, Encephalocele, ... |
ORPHA:63259 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Cervical ribs, Epispadias, Rib fusion, Short neck, Short palm, Verte... |
OMIM:148050 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor, Corneal opacity |
OMIM:602400 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy |
ORPHA:352682 |
| Achromatopsia 2 |
|
Myopic astigmatism, Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of th... |
OMIM:216900 |
| Dpagt1-Cdg |
|
Optic atrophy, Head-banging, Hearing impairment, Clinodactyly, EEG with generalized slow activity... |
ORPHA:86309 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set ears, Wide nasal base, Flared nostrils, Small hand, Hearing impairment, Overlapping toe, ... |
ORPHA:480880 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Hypophosph... |
OMIM:276700 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Pigmentary retinopathy, Hearing impairment, Increased circulating prolactin concentration, Abnorm... |
ORPHA:502423 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Hypoplastic scapulae, Micromelia, Generalized dystonia, Death in early adulthood, Senso... |
ORPHA:79107 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Vertebral segmentation defect, Microphthalmia, Pectus excavatum, Scoli... |
OMIM:612530 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... |
OMIM:308940 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural h... |
ORPHA:500159 |
| Lopes-Maciel-Rodan Syndrome |
|
Motor stereotypy, Bruxism, Dysphagia, Agitation |
OMIM:617435 |
| Mucopolysaccharidosis Type 7 |
|
Abnormal hip bone morphology, Epiphyseal stippling, Mucopolysacchariduria, Diaphyseal undertubula... |
ORPHA:584 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ... |
OMIM:256800 |
| Galactosemia I |
|
Aminoaciduria, Cataract, Galactosuria, Premature ovarian insufficiency, Increased level of galact... |
OMIM:230400 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Spina bifida, Meningocele |
ORPHA:1393 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Bilateral fetal pyelectasis, Perimembranous ven... |
OMIM:606812 |
| Wilson Disease |
|
Kayser-Fleischer ring, Abnormality of the menstrual cycle, Aggressive behavior, Abnormality of th... |
ORPHA:905 |
| Curry-Jones Syndrome |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... |
OMIM:601707 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Broad nasal tip, Megalocornea, Single transverse palmar crease, Attentio... |
OMIM:618354 |
| Behr Syndrome |
|
Optic atrophy, Dysphagia, Hypoplastic optic chiasm, Sensory axonal neuropathy |
OMIM:210000 |
| Myhre Syndrome |
|
Abnormal penis morphology, Cataract, Precocious puberty, Hypoplasia of the maxilla, Mandibular pr... |
ORPHA:2588 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Retinopathy, Polydactyly |
OMIM:617120 |
| Peho Syndrome |
|
Optic atrophy, Undetectable visual evoked potentials, Retrognathia, Peripheral dysmyelination, Hy... |
OMIM:260565 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Low-set ears, Small scrotum, Depressed nasal bridge, Underdeveloped nasal alae, Hypogonadism, Ant... |
ORPHA:228390 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:141127 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Short distal phalanx of finger, Carious teeth, Mandibular osteomyelitis, Hearing i... |
ORPHA:53 |
| Auriculocondylar Syndrome 2B |
|
Omphalocele |
OMIM:620458 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic atrophy, Broad thumb, Restlessness, Broad hallux, Death in infancy, Self-biting, Optic disc... |
OMIM:614388 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Rheumatoid arthritis, Enlarged kidney |
ORPHA:79128 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Depressed nasal bridge, Small hand, Decreased response to growth hormone stimulatio... |
OMIM:241410 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Umbilical hernia, Vesicoureteral reflux, Renal in... |
OMIM:107480 |
| Oculoectodermal Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Microcornea, Supernumerary nipple, Astigmatism, Chorio... |
OMIM:600268 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Cysticercosis |
|
Iridocyclitis, Abnormal optic chiasm morphology, Retinal detachment, Chorioretinitis |
ORPHA:1560 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Recurrent fractures, Micrognathia, Joint hypermobility, Wo... |
ORPHA:2050 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Absent gallbladder, ... |
ORPHA:3310 |
| Radio-Tartaglia Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Upslanted p... |
OMIM:619312 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Action tremor, Cone/cone-rod dystrophy, Lingual dystonia, Optic disc pallor, Generalized aminoaci... |
ORPHA:404454 |
| Alveolar Echinococcosis |
|
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts |
ORPHA:284 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Abnormality of the ureter, Micrognathia, Genu valgum, Hip contracture, Bowing ... |
ORPHA:800 |
| Krabbe Disease |
|
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Peripheral demyelination,... |
OMIM:245200 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency |
ORPHA:160 |
| Retinoblastoma |
|
Pinealoma, Retinoblastoma, Leukocoria, Vitreous hemorrhage, Retinal calcification, Vitritis |
OMIM:180200 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Dysuria, Renal insufficiency |
ORPHA:35687 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Wide nasal bridge, Small hand, Optic nerve hypoplasia, Head-banging, Hearing impairment, Finger c... |
OMIM:620455 |
| Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... |
ORPHA:206436 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Renal agenesis, Hearing impairment, Male infertility, Horseshoe kidney, Absent radi... |
OMIM:227650 |
| Cerebellofaciodental Syndrome |
|
Low-set ears, Cataract, Macrodontia of permanent maxillary central incisor, Dental malocclusion, ... |
OMIM:616202 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Polyphagia, H... |
OMIM:607872 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Retrognathia, Prominent fingertip pads, ... |
OMIM:620098 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Abnormally large globe, Absent paranasal sinuses, Broad ribs, Sclerosis of skull base... |
OMIM:269300 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... |
OMIM:605282 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect ... |
OMIM:229400 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Patent ductus arteriosus |
OMIM:300712 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Unilateral renal agenesis, Low-set ears, Renal agenesis, Bulbous nose, Bifid ... |
OMIM:608980 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Li... |
OMIM:616580 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Retinopath... |
OMIM:219900 |
| Stt3B-Cdg |
|
Micropenis, Optic atrophy, Cryptorchidism, Small scrotum |
ORPHA:370924 |
| Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Broad nasal tip, Micrognathia, Cryptorchidism, Si... |
OMIM:614969 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Harlequin Ichthyosis |
|
Self-injurious behavior, Cataract, Depressed nasal ridge, Hearing abnormality, Hand polydactyly, ... |
ORPHA:457 |
| Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Delayed skeletal maturation, Hypertr... |
ORPHA:1517 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Low-set ears, Cataract, Wide nasal bridge, Microretrognathia, Anteverted nares, Cryptorchidism, 3... |
OMIM:614052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia |
ORPHA:2248 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula |
ORPHA:309246 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Neonatal... |
OMIM:600501 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... |
OMIM:610188 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Urethral stricture,... |
OMIM:619522 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Short palpebral fissure, Recurrent hand flapping, Almond-shaped palpebra... |
OMIM:300986 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Obesity, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Compulsive b... |
OMIM:618430 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Hypoplasia of the nasal bone, Rod-cone dystrophy, Sensorineural hea... |
OMIM:606943 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissu... |
OMIM:617061 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Cataract, Depressed nasal bridge, Broad nasal tip, Retrognathia, Pectoralis hypoplasia, Anteverte... |
OMIM:254940 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... |
OMIM:613426 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Emotional lability, Peripheral axonal ... |
ORPHA:35069 |
| Acrocallosal Syndrome |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Finger syndactyly, ... |
OMIM:200990 |
| Opitz Gbbb Syndrome |
|
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ve... |
ORPHA:2745 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Menometrorrhagia, Keratoconus, Epistaxis, Elbow dislocation, Vertigo, Decreased nerve conduction ... |
ORPHA:285 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys |
OMIM:300143 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Joubert Syndrome 6 |
|
Nephronophthisis, Chorioretinal coloboma, Stage 5 chronic kidney disease, Retinal degeneration, M... |
OMIM:610688 |
| Olmsted Syndrome 1 |
|
Autoamputation of digits, Opacification of the corneal stroma, Palmoplantar keratoderma, Corneal ... |
OMIM:614594 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy |
ORPHA:900 |
| Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Hearing impairment, Cryptorchidism, Absent radius, Microphthalmia, Duplicated colle... |
OMIM:227646 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Congenital hip dislocation, Abnormal temper tantrums, Supernumerary nipple, Astigma... |
ORPHA:457279 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Short 2nd... |
OMIM:311200 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... |
OMIM:615709 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Optic atrophy, Retinal degeneration |
OMIM:616896 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Re... |
ORPHA:2728 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Natal tooth, Delayed eruption of teeth, Intention tremor, Tremor, Hypogonadotropic... |
OMIM:614381 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... |
ORPHA:798 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Optic atrophy, Sensorineural hearing impairment, Dystonia, Athetosis, Dysphagia, Intention tremor |
OMIM:617951 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Nuclear cataract, Joint contracture of the hand, Camptodactyly |
OMIM:601701 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Primary amenorrhea, Hypoplasia of ... |
ORPHA:95496 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Pectus excavat... |
OMIM:227330 |
| Juvenile Paget Disease |
|
Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairment, Abnormality of retinal p... |
ORPHA:2801 |
| Sclerosteosis 1 |
|
Irregular menstruation, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Dental malocclu... |
OMIM:269500 |
| Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Retinopathy, Corneal opacity |
ORPHA:2396 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, 2-3 toe cutaneous syndactyly, Bruxism, A... |
OMIM:300260 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Cataract, Depressed nasal bridge, Metaphyseal irregularity, Cong... |
OMIM:616007 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Omphalocele, Ventricular septal defect |
OMIM:243150 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Depressed nasal bridge, Abnormal epiphysis morphology, Short finger,... |
ORPHA:226307 |
| Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... |
OMIM:619488 |
| Optic Pathway Glioma |
|
Precocious puberty, Optic atrophy, Neurofibroma, Vertigo, Papilledema |
ORPHA:2086 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Conductive hearing impairment, Retrognathia, Cranial nerve compression, Persistenc... |
ORPHA:2785 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ac... |
OMIM:604278 |
| Pagod Syndrome |
|
Hypoplastic left heart, Abnormal clavicle morphology, Situs inversus totalis, Congenital diaphrag... |
ORPHA:991 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Unilateral microphthalmos, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Hereditary Mucoepithelial Dysplasia |
|
Cataract, Abnormal morphology of female internal genitalia, Hematuria, Abnormality of the bladder... |
ORPHA:1839 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Renal dysplasia |
ORPHA:48652 |
| Coffin-Siris Syndrome 7 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... |
OMIM:618027 |
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Optic atrophy, Decreased testicular size, Cryptorchidism, 3-Methylglut... |
OMIM:610198 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Sensory axonal neuropathy, Facial diplegia, Conjunctival hyperemia, 2-3 toe syndactyly, Motor ste... |
OMIM:619121 |
| Cystinosis, Nephropathic |
|
Genu valgum, Hematuria, Dysphagia, Male infertility, Aminoaciduria, Generalized aminoaciduria, Ma... |
OMIM:219800 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... |
OMIM:616294 |
| Keutel Syndrome |
|
Optic atrophy, Depressed nasal bridge, Short distal phalanx of finger, Hearing impairment, Underd... |
ORPHA:85202 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, High iliac wing, Conductive hearing impairment, Delaye... |
ORPHA:2780 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Anosmia, Decreased motor nerve conduction velocity, Mild neurosensory hearing impa... |
OMIM:601152 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Micrognathia, Ventricular septal defect, Aortopulmonary window, Hepatomegaly, C... |
OMIM:620025 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Upslanted palpebral fissure, Hyper... |
OMIM:301013 |
| Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia, Rod-cone dystrophy |
OMIM:602097 |
| Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Hearing impairment, Hypoplastic optic chiasm, Neurogenic bladder, Hypsarrhythmia, ... |
OMIM:617669 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Renal hypoplasia, Recurrent urinary tract infections |
OMIM:617157 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Stage 5 chronic kidney disease, Gout, Increased susceptibility to f... |
ORPHA:79259 |
| Alkaptonuria |
|
Aminoaciduria, Elevated urinary homogentisic acid, Abnormality of the nose, Dark urine, Black pig... |
ORPHA:56 |
| Pseudohypoparathyroidism Type 1A |
|
Low urinary cyclic AMP response to PTH administration, Sensorineural hearing impairment, Polyphag... |
ORPHA:79443 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Posterolateral diaphragmatic... |
OMIM:613177 |
| Desbuquois Dysplasia 1 |
|
Developmental glaucoma |
OMIM:251450 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Preaxial hand po... |
ORPHA:96179 |
| Leber Optic Atrophy |
|
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy |
OMIM:535000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Renal insufficiency, Anorexia, Dystonia, Choreoathetosis |
ORPHA:79312 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Renal agenesis, Hearing impairment, Short thumb, Horseshoe kidney, Absent radius, C... |
OMIM:600901 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hearing impairment, Finger syndactyly, Micrognathia, Foot polydacty... |
ORPHA:2750 |
| Canavan Disease |
|
Optic atrophy, Hearing impairment, Opisthotonus, Hypsarrhythmia, Elevated urine N-acetylaspartic ... |
OMIM:271900 |
| Limb Body Wall Complex |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Broad hallux, Aplasia of the proximal... |
ORPHA:2369 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Hearing impairment, Persistence of primary teeth, Anteverted ... |
OMIM:610253 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Hearing impairment, Generalized dystonia, Urinary urgency, Intention tremor, Tremo... |
OMIM:312080 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Uterus didelphy... |
OMIM:146255 |
| Gaucher Disease |
|
Cholelithiasis, Hearing impairment, Abnormal macular morphology, Cherry red spot of the macula, R... |
ORPHA:355 |
| Osteogenesis Imperfecta |
|
Carious teeth, Hearing impairment, Abnormal tibia morphology, Micrognathia, Genu valgum, Bowing o... |
ORPHA:666 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal eyelash morphology |
ORPHA:2518 |
| Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Abnormal ... |
ORPHA:83 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... |
ORPHA:466791 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Astigmatism, Optic nerve dysplasia |
OMIM:617296 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen... |
ORPHA:1435 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction |
OMIM:616973 |
| Holzgreve Syndrome |
|
Renal hypoplasia/aplasia, Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
| Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Hypoplasia of the maxilla, Ectopia lentis, Depressed nasal bridge, B... |
OMIM:608328 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Depressed nasal bridge, Delayed eruption of te... |
ORPHA:94089 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Pigmentary retinopathy, Depression, Bull's eye maculopathy, Emotional lability, Re... |
ORPHA:157850 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Low-set ears, Prominent nose, Neurogenic bladder, Optic disc pallor, Dystonia |
OMIM:617762 |
| Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Chorioretinal coloboma, Proboscis, Aplasia of the nasal bone, Aplasi... |
OMIM:157170 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Kindler Epidermolysis Bullosa |
|
Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Abnormal den... |
ORPHA:2908 |
| Lathosterolosis |
|
2-3 toe cutaneous syndactyly, Cataract, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly,... |
OMIM:607330 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Carious teeth, Hearing impairment, Lacrimal gland hypoplasia, Lim... |
OMIM:149730 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Peripheral demyelination, Opacification of the corneal stroma, Faci... |
OMIM:205400 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... |
OMIM:300912 |
| Microform Holoprosencephaly |
|
Choanal atresia, Renal agenesis, Cyclopia, Panhypopituitarism, Narrow nasal bridge, Anteverted na... |
ORPHA:280200 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Bicuspid aortic valve |
OMIM:618955 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Low-set ears, Optic atrophy, Clitoral hypertrophy, Anteverted nares, Prominent nasal bridge, Fuse... |
OMIM:608688 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract, Papillary renal cell carcinoma type 2, Vaginal neoplasm, Uterine leiomyosarcoma, Uterin... |
ORPHA:523 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Micrognathia, Single transverse palmar crease, Postaxial polydactyly... |
OMIM:617527 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Hand clenching, Retrognathia, Elbow flexion ... |
OMIM:617301 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Long eyelashes, Ptosis, Motor stereotypy, Synophrys |
ORPHA:238750 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Depressed nasal bridge, Cholelithiasis, Myopic astigmatism, EEG with parietal... |
OMIM:301066 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D... |
OMIM:180900 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... |
OMIM:158330 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Metaphyseal dysplasia, Thoracic hypoplasia, Femoral bowing, Limited e... |
OMIM:618019 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Renal insufficiency, Renal tubular dysfunction, Dystonia, Choreoathetosis |
ORPHA:289916 |
| Pancreatic And Cerebellar Agenesis |
|
Low-set ears, Optic nerve hypoplasia, Pancreatic hypoplasia, Overlapping fingers, Death in infanc... |
OMIM:609069 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Motor stereotypy |
ORPHA:280763 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia |
ORPHA:391307 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Head tre... |
OMIM:619428 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Ptosis |
OMIM:612291 |
| Cinca Syndrome |
|
Hearing impairment, Pseudopapilledema, Sensorineural hearing impairment, EEG abnormality, Brachyd... |
ORPHA:1451 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Small hand, Hearing impairment, Clinodactyly, Overlapping toe, Micrognathia, Crypto... |
OMIM:309590 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Cataract, Wide nasal bridge, Increased carrying angle, Renal insufficiency, Brachyda... |
OMIM:247410 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Nephritis, Insulin resistance, Glycosuria, Insulin-resistant diabetes... |
ORPHA:2298 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Motor stereotypy |
OMIM:613443 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Optic atrophy, Hypoplastic female external genitalia, Hand clenching, Retrognathia, EEG with burs... |
OMIM:606056 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:619841 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Micrognathia, Short nose,... |
OMIM:256600 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Narr... |
ORPHA:1452 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Mepan Syndrome |
|
Optic atrophy, Hemidystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Dystonia, Dysp... |
ORPHA:508093 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydronephrosis, Micropenis, Hypospadias, Patent ductus arteriosus |
ORPHA:163979 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Short umbilical cord |
OMIM:600383 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy... |
ORPHA:2215 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Cataract, Abnormality of the urinary system, Sensorineural hearing impairment, Dysphagia, Upper l... |
ORPHA:100986 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Cardiac rhabdomyoma, Renal insufficiency, Stage 5 chronic kidney disease,... |
ORPHA:805 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Conjunctival telangiectasia |
ORPHA:95433 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Optic atrophy, Pigmentary retinopathy, Optic disc pallor, Dysphagia |
OMIM:617282 |
| Floating-Harbor Syndrome |
|
Varicocele, Broad thumb, Short 1st metacarpal, Dislocated radial head, Glandular hypospadias, Sho... |
OMIM:136140 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Polydipsia, Anteverted na... |
ORPHA:769 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ... |
ORPHA:411629 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Recurrent otitis media, Anteverted nares, Prominent nasal bridge, Sensorineural hea... |
OMIM:617751 |
| Galloway-Mowat Syndrome 3 |
|
Stage 5 chronic kidney disease, Micrognathia, Proteinuria, Diffuse mesangial sclerosis, Glomerula... |
OMIM:617729 |
| Cinca Syndrome |
|
Papilledema, Hearing impairment, Progressive sensorineural hearing impairment, Uveitis |
OMIM:607115 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
| Pseudohypoparathyroidism Type 1C |
|
Low urinary cyclic AMP response to PTH administration, Polyphagia, Short metacarpal, Cataract, Br... |
ORPHA:79444 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Congenital hip dislocation, Fractures of the long bones, Micrognathia, Motor axona... |
ORPHA:496641 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Choanal atresia, Depressed nasal bridge, Palmo... |
ORPHA:1555 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Tremor, Corneal opacity |
ORPHA:28378 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy |
OMIM:609541 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Umbilical hernia, Renal a... |
OMIM:194050 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Hearing impairment, Finger syndactyly, Camptodactyly of finger, Abnor... |
ORPHA:2907 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... |
ORPHA:1827 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Abnormality of the urinary system, Hearing impairment, Dystonia, Choreoathetosis, ... |
ORPHA:702 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Optic atrophy, Small scrotum, Broad thumb, Bifid scrotum, Thumb contracture, Low-set, posteriorly... |
ORPHA:324540 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Cataract, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoparathyr... |
ORPHA:2238 |
| Aymé-Gripp Syndrome |
|
Low-set ears, Cataract, Depressed nasal bridge, Reduced arm span, Megalocornea, Breast hypoplasia... |
ORPHA:1272 |
| D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, Patent ductus arteriosus, Urachus fistula, Recurrent urinary tract infections |
OMIM:612541 |
| Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Nuclear cataract |
OMIM:608885 |
| Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Cryptorchidism, Narrow palm, Impulsivity, Aggressive behavior, Ulnar deviation... |
OMIM:619435 |
| Saethre-Chotzen Syndrome |
|
Buphthalmos |
OMIM:101400 |
| Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Bilateral cryptorchidism, Action tremor, 3-Methylglutaconic aciduria, Dystonia, Re... |
ORPHA:66634 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Postaxial foot polydactyly, Low-set, posteriorly rotated ears, Micrognathia, Singl... |
ORPHA:521426 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Depressed nasal ridge, Ectopic anterior... |
ORPHA:95494 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Underdeveloped nasal alae, Wide nose, Cryptorchidism, Overfolded helix, Thickened h... |
OMIM:617506 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Cataract, Anterior lenticonus, Chronic kidney disease, Keratitis, Uterine neoplasm, ... |
ORPHA:1018 |
| Viss Syndrome |
|
Low-set ears, Exostosis of the external auditory canal, Micrognathia, Genu valgum, Contracture of... |
OMIM:619472 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Low-set ears, Depressed nasal bridge, Self-injurious behavior, Head-banging, Recurrent otitis med... |
OMIM:619575 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Postaxial polydactyly, ... |
OMIM:615824 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Micrognathia, Cubitus valgus, Hall... |
OMIM:620072 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Palpebral edema, Motor stereotypy |
ORPHA:261144 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Claw hand deformity, Flared iliac wing, Mucopolysacchariduria, Flat capital femoral ... |
OMIM:252605 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... |
OMIM:616749 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Sparse lateral eyebrow, Downslanted palpebral fissures, Frequent temper tantrums, A... |
OMIM:619103 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Micrognathia, Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... |
ORPHA:320406 |
| Bcard Syndrome |
|
Low-set ears, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypo... |
OMIM:612394 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Bilatera... |
ORPHA:2563 |
| Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Clinodactyly, Underdeveloped nasal alae, Anteverted nares, Prominent nasal b... |
OMIM:617883 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperexte... |
OMIM:130050 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Recurrent uri... |
ORPHA:99027 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Micropenis, Renal hypoplasia, Vesicoureteral reflux, Hypospadias |
OMIM:309580 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Macular degeneration, Carious teeth, Broad nasal tip, Patellar hypoplasia, Hypogon... |
ORPHA:3132 |
| Caroli Disease |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly |
ORPHA:53035 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, C... |
OMIM:180700 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Cataract, Wide nasal bridge, Short distal phalanx of finger, Renal insufficiency, Br... |
ORPHA:1563 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Mucopolysacchariduria, Opacification of the corneal stroma, Short femoral neck, Shor... |
OMIM:184095 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma, EEG abnormality, Adenoma sebaceum |
ORPHA:2612 |
| Blau Syndrome |
|
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Flexion contracture of toe, Campto... |
OMIM:186580 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Barrel-shaped chest, Decreased skull ossification... |
OMIM:610915 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Microphthalmia, Thyroid C cell hyperplasia, Delayed eruption of primary teeth |
OMIM:300952 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
| Holoprosencephaly 7 |
|
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral microphthalm... |
OMIM:610828 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Posterior Y-sutural cataract, Carious teeth, Delayed eruption of teeth... |
ORPHA:50814 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent ear helix, Micrognathia, Female hypogonadism, Corneal ulceration, Hip dislocation, High... |
ORPHA:740 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Epicanthus, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Motor s... |
OMIM:620242 |
| Roifman-Chitayat Syndrome |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Cone-shaped epiphysis, Short metatarsal... |
OMIM:613328 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Low-set ears, Broad nasal tip, Anteverted nares, Prominent nasal bridge, Vesicoureteral reflux, A... |
OMIM:617330 |
| Agel Amyloidosis |
|
Cataract, Hearing impairment, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotensio... |
ORPHA:85448 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Micrognathia, Phimosis, Joint hypermobility, Short neck, Aplasia/Hypoplasia of the r... |
ORPHA:75857 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Hand clenching, Ventricular septal defect, Camptodactyly of finger |
OMIM:616920 |
| Hydranencephaly |
|
Atrophic pituitary gland, Chorioretinal atrophy, Opisthotonus, Infantile sensorineural hearing im... |
ORPHA:2177 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Bilateral radial aplasia, Absent thumb, Renal agenesis, Optic disc hypoplasia, Hypo... |
OMIM:300514 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cataract, Abnormal vestibular function, Sensory axonal neuropathy, Retinal pigment epithelial mot... |
OMIM:607459 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Almond-shaped palpebral fissure, Irritability, Long palpebral fissure, Choking epi... |
OMIM:620352 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... |
ORPHA:529808 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Small scrotum, Microphallus, Cryptorchidism, Self-mutilation, Hyperactivity, Micropenis, Motor st... |
OMIM:300486 |
| Wolfram Syndrome 2 |
|
Optic atrophy, Sensorineural hearing impairment, Neurogenic bladder, Oligomenorrhea, Primary amen... |
OMIM:604928 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Nuclear cataract, Flexion contracture of finger, Palmoplantar keratoderma |
ORPHA:1010 |
| Cadds |
|
Cataract, Micrognathia, Sensorineural hearing impairment, Dystonia, Short nose |
ORPHA:369942 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Johnson Neuroectodermal Syndrome |
|
Hypogonadism, Hand polydactyly, Preaxial hand polydactyly |
ORPHA:2316 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Camurati-Engelmann Disease |
|
Carious teeth, Hearing impairment, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia,... |
ORPHA:1328 |
| Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Hearing impairment, Dysphagia, Torticollis, Urinary incontinence, Optic disc pallo... |
ORPHA:98768 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Choanal atresia, Depressed nasal bridge, Natal tooth, Atresia of the external audi... |
OMIM:123790 |
| C Syndrome |
|
Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Bilateral single transverse palmar c... |
ORPHA:1308 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Dyskeratosis Congenita, X-Linked |
|
Optic atrophy, Cataract, Carious teeth, Pterygium, Horseshoe kidney, Decreased testicular size, C... |
OMIM:305000 |
| Bainbridge-Ropers Syndrome |
|
Low-set ears, Hand clenching, Supernumerary nipple, Micrognathia, Cryptorchidism, Arachnodactyly,... |
OMIM:615485 |
| L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, L-2-hydroxyglutaric aciduria, Hearing impairment |
OMIM:236792 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Dysphagia |
OMIM:618233 |
| Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Clitoral hypertrophy, Abnormal epiphysis morphology, Elbow dislocation, Slende... |
ORPHA:2554 |
| Mucopolysaccharidosis, Type Ii |
|
Hearing impairment, Delayed eruption of teeth, Recurrent otitis media, Heparan sulfate excretion ... |
OMIM:309900 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract, Ethylmalonic aciduria |
OMIM:201470 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... |
ORPHA:206443 |
| Premature Aging Syndrome, Okamoto Type |
|
Low-set ears, Cataract, Abnormal pinna morphology, Depressed nasal bridge |
OMIM:601811 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Abnormal clavicle morphology, Increased circulating cortisol level... |
ORPHA:249 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, EEG abnormality, Urinary incontinence, Dystonia, Dysphagia |
OMIM:618868 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm |
ORPHA:538 |
| Distal Deletion 3P |
|
Hearing impairment, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchi... |
ORPHA:1620 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... |
OMIM:617205 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma |
OMIM:215250 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Optic atrophy, Recurrent urinary tract infections, Hypere... |
OMIM:619487 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Dystonia, Neurogenic bladder, Hypsarrhythmia, Hip subluxation, Increased cup-to-di... |
ORPHA:500144 |
| Pettigrew Syndrome |
|
Self-injurious behavior, Optic atrophy, High-frequency hearing impairment, Prominent nose, Sensor... |
OMIM:304340 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Delayed skeletal maturation, Rhizomelic... |
ORPHA:93317 |
| Dysosteosclerosis |
|
Optic atrophy, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Hearing impairmen... |
ORPHA:1782 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Clinodactyly, Omphalocele, Ventricular septal defect |
ORPHA:1199 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Hematuria, Tubu... |
ORPHA:1652 |
| Yunis-Varon Syndrome |
|
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, B... |
OMIM:216340 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Retrognathia, Optic nerve hypoplasia |
OMIM:600775 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Optic atrophy, Ulnar deviation of finger, Slender long bone, Chorioretinal coloboma, Hypoplasia o... |
OMIM:210730 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Hand tremor, Motor axonal neuropathy, Urinary incontinence, Dystonia, Dysphagia |
ORPHA:289560 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Maternal diabete... |
ORPHA:2549 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Nephrocalcinosis |
OMIM:146200 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Neurogenic bladder, Abnormal autonomic nervous system physiology, Sensorineural he... |
ORPHA:466934 |
| Malignant Atrophic Papulosis |
|
Vertigo, Cataract, Abnormal optic nerve morphology, Abnormality of the lower urinary tract |
ORPHA:679 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Pigmentary retinopathy, Depression, Blepharospasm, Obsessive-compulsi... |
OMIM:234200 |
| Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Keratoconus, Congenital hip dislocation, Carious teeth, Uteri... |
ORPHA:286 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Downslanted palpebral fissures, Bruxism, Hair-pulling, Epicanthus, Aggre... |
OMIM:616393 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Hyperphosphaturia, Renal tubula... |
OMIM:220110 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Hearing impairment, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Opacif... |
OMIM:158310 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia |
OMIM:619950 |
| Frontonasal Dysplasia 2 |
|
Low-set ears, Depressed nasal ridge, Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, ... |
OMIM:613451 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Depressed nasal bridge, Notched primary central incisor, Palmoplantar keratoderma, Corneal opacity |
OMIM:620519 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormally large globe |
OMIM:210700 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Facial palsy |
OMIM:611490 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, EEG abnorma... |
ORPHA:206448 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased body weight, Increased urinary cortisol level, Hyperglycemia, Abdominal obesity |
OMIM:615954 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Optic atrophy, Restlessness, Dysphagia |
OMIM:277470 |
| Biotinidase Deficiency |
|
Optic atrophy, Organic aciduria, Hearing impairment, Sensorineural hearing impairment, Conjunctiv... |
ORPHA:79241 |
| Pallister-Killian Syndrome |
|
Low-set ears, Small scrotum, Small hand, Postaxial foot polydactyly, Hearing impairment, Supernum... |
OMIM:601803 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Choanal atresia, Conductive hearing impairment, Retrognathia, Slender long bone, A... |
ORPHA:561 |
| Neu-Laxova Syndrome |
|
Cataract, Depressed nasal ridge, Retrognathia, Micromelia, Pterygium, Hypogonadism, External geni... |
ORPHA:2671 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... |
ORPHA:98957 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Mesomelia, Bilateral cryp... |
OMIM:613457 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Hand tremor, Hand muscle weakness, Sensorineural heari... |
ORPHA:101076 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... |
ORPHA:2088 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Narrow chest, Rhizomelia, Micromelia, Delayed cranial suture closure, Decreased calva... |
OMIM:610682 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Motor stereotypy, Renal tubular acidosis |
ORPHA:79155 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Ptosis, Epicanthus |
ORPHA:1185 |
| Ramon Syndrome |
|
Pigmentary retinopathy, Hearing impairment, Delayed eruption of teeth, Enlarged labia minora, Axe... |
OMIM:266270 |
| Monosomy 9P |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Atresia of the external auditory canal, Pr... |
ORPHA:261112 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Hyperphosphaturia, Renal tubula... |
ORPHA:436271 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration |
OMIM:616811 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity... |
OMIM:619580 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Opacification of the corneal stroma, Adrenal hyperplasia |
ORPHA:3453 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cataract, Nephrocalcinosis, Depressed nasal bridge, Conductive hearing impairment, Delayed erupti... |
OMIM:300990 |
| Blau Syndrome |
|
Nephropathy, Cataract, Posterior uveitis, Keratitis, Abnormal optic nerve morphology, Camptodacty... |
ORPHA:90340 |
| Biotinidase Deficiency |
|
Conjunctivitis, Optic atrophy, Organic aciduria, Sensorineural hearing impairment |
OMIM:253260 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Carious teeth, Hypsarrhythmia, Short foot, Motor stereotypy, Dysphagia, Yellow-brown ... |
OMIM:619229 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Microspherophakia, Spinal canal stenosis, Broad ribs, Joint stiffness, Lum... |
OMIM:277600 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria |
ORPHA:79284 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Neurogenic bladder, Hearing impairment, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Fetal Cytomegalovirus Syndrome |
|
Retinal hemorrhage, Optic atrophy, Chorioretinitis, Sensorineural hearing impairment |
ORPHA:294 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe |
ORPHA:96190 |
| Ablepharon-Macrostomia Syndrome |
|
Toe syndactyly, Cutaneous finger syndactyly, Ventral hernia, Talipes equinovarus, Omphalocele, Ca... |
OMIM:200110 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Microphthalmia, Kyphosis |
OMIM:153400 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Cataract, High-frequency hearing impairment, Allergic conjunctivitis, Sensorin... |
OMIM:176690 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Abnormal metacarpophalangeal joint ... |
ORPHA:465508 |
| Holoprosencephaly 13, X-Linked |
|
Low-set ears, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Cyclopia, Aplasia of the ... |
OMIM:301043 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Dysphagia... |
OMIM:616462 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Broad thumb, Finger syndactyly, Bifid scrotum, Preaxial hand polydacty... |
ORPHA:2211 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy |
OMIM:618800 |
| X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Cataract, Galactosuria, Depressed nasal bridge, Small hand, Organic aciduria, Long... |
ORPHA:85276 |
| Bangstad Syndrome |
|
Abnormally large globe |
OMIM:210740 |
| Isolated Arrhinia |
|
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... |
ORPHA:1134 |
| Zimmermann-Laband Syndrome 1 |
|
Low-set ears, Cataract, Wide nasal bridge, Long penis, Broad nasal tip, Hearing impairment, Delay... |
OMIM:135500 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplasia of the capital femoral epiphysis, Hypoplastic iliac wing, Irregular epiphyses, Coxa va... |
OMIM:313400 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Nasal polyposis, Abnormal cornea morphology, Conductive hearing impairment, Chronic rhin... |
OMIM:244400 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Retrognathia, Increased circulating prolactin concentration, Vesicoureteral r... |
ORPHA:438213 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Carious teeth, Facial paralysis, Mandibular osteomyelitis, Cranial nerve compressi... |
OMIM:259710 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Agitation |
ORPHA:134 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Carious teeth, Facial paralysis, Hearing impairment, Flared metaphysis, Femur frac... |
OMIM:259700 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Optic atrophy, Recurrent upper respiratory tract infections, Decreased motor nerve conduction vel... |
ORPHA:1187 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Urinary incontinence, Dysto... |
ORPHA:309263 |
| Neu-Laxova Syndrome 2 |
|
Low-set ears, Cataract, Depressed nasal ridge, Toe syndactyly, Finger syndactyly, Micrognathia, R... |
OMIM:616038 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Dilatation of the renal pelvis, Overlapping fingers, Micrognathia, Head titubation... |
OMIM:619708 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Optic atrophy, Nephrocalcinosis, Elevated urine glycolate, Chor... |
ORPHA:416 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Failure to thrive, Hypoglycemia |
OMIM:615453 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Rachitic rosary, Limitation of joint mobility, Rickets, Hypocalciuria, S... |
ORPHA:89936 |
| Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca |
ORPHA:411777 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis |
ORPHA:85410 |
| Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Hearing abnormality, Decreased distal sensory nerve action potential, Abnormal autonomic nervous ... |
OMIM:614575 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Optic atrophy, Dysphagia, Decreased nerve conduction velocity |
ORPHA:485421 |
| Developmental And Epileptic Encephalopathy 6B |
|
Multifocal epileptiform discharges, Dystonia, Motor stereotypy, EEG with spike-wave complexes (>3... |
OMIM:619317 |
| Bohring-Opitz Syndrome |
|
Wide nasal bridge, Optic atrophy, Cholelithiasis, Depressed nasal bridge, Annular pancreas, Urina... |
ORPHA:97297 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Cataract, Pigmentary retinopathy, Tinnitus, Narrow nasal ridge, Polyuria, Developme... |
OMIM:606721 |
| Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe |
OMIM:611936 |
| Wolfram Syndrome |
|
Nephropathy, Optic atrophy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Rec... |
ORPHA:3463 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Macular edema, Avascular necrosis of the capital femoral epiphysis, Proteinuria, Abn... |
ORPHA:247691 |
| Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Self-mutilation, Epicanthus, Attention deficit hyperactivity disorder, Aggressive behavior, Conge... |
ORPHA:476126 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Decreased nerve conduction velocity, Urinary incontinence, Dystonia, Bilateral sen... |
ORPHA:309256 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Prominent antihelix, Inappropriate laughter, Enamel hypoplasia, Retinal d... |
OMIM:615802 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, 3-Methylglutaconic aciduria, Sensorineural hearing impairment, Bile duct prolifera... |
OMIM:618329 |
| Kabuki Syndrome 1 |
|
Hydronephrosis, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Micropenis |
OMIM:147920 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Depression, Emotional lability, Motor axonal neuropathy, Abnormal lower motor neur... |
OMIM:614298 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Failure to thrive, Self-mutilation, Sensorineural hearing impairment, Stereotypical... |
OMIM:212066 |
| Cohen-Gibson Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Depressed nasal bridge, Broad thumb, Retrognathia, Fla... |
OMIM:617561 |
| Caroli Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney |
ORPHA:480520 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Long eyelashes, Thick eyebrow, Hyperactivity |
OMIM:617281 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hearin... |
ORPHA:99885 |
| Behçet Disease |
|
Cataract, Vertigo, Renal insufficiency, Retinopathy, Orchitis, Glomerulopathy, Keratoconjunctivit... |
ORPHA:117 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Underfolded sup... |
OMIM:300352 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Low-set ears, Cataract, Wide nasal bridge, Retrognathia, Bilateral cryptorchidism, Narrow naris, ... |
OMIM:617403 |
| Craniopharyngioma |
|
Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism... |
ORPHA:54595 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal dental pulp morphology, Abnormal tibia morphology, Schwannoma, Micrognathia, Genu valgum... |
ORPHA:363700 |
| Distal Deletion 15Q |
|
Low-set ears, 2-3 toe cutaneous syndactyly, Multicystic kidney dysplasia, Broad nasal tip, Small ... |
ORPHA:1596 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Tetralogy of Fallot, Encephalocele... |
OMIM:100300 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Epicanthus, Motor stereotypy, Upslanted palpebral fissure, Overfriendliness |
OMIM:616579 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Enamel hypoplasia, Corneal opacity |
ORPHA:79396 |
| Aspergillosis |
|
Osteomyelitis, Abnormality of the vertebral column, Abnormality of the kidney, Abnormal rib morph... |
ORPHA:1163 |
| Hennekam-Beemer Syndrome |
|
Wide nasal bridge, Optic atrophy, Conductive hearing impairment, Hearing impairment, Camptodactyl... |
ORPHA:2135 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Orthostatic hypotension due... |
ORPHA:309271 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Delayed skeletal maturation, Distal shortening of limbs, Short neck, Abno... |
ORPHA:488434 |
| Genitopatellar Syndrome |
|
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Hearing impairment, Enlarged l... |
OMIM:606170 |
| Amish Lethal Microcephaly |
|
Optic atrophy, Micrognathia, Organic aciduria, Death in infancy |
ORPHA:99742 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Agitation |
ORPHA:927 |
| Menke-Hennekam Syndrome 1 |
|
Low-set ears, Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, Absent earlobe, ... |
OMIM:618332 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Preaxial hand polydactyly, Breast aplasia, Cryptorchidism, Aplasia/Hypoplas... |
OMIM:617063 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals, Abnormal retinal morphology |
OMIM:219750 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Narrow chest, Sandal gap, Micrognathia, Postaxial polydactyly, 2-... |
OMIM:614099 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Emotional lability, Hyperactivity, Dysphagia, Impulsivity |
OMIM:610217 |
| Primrose Syndrome |
|
Hearing impairment, Genu valgum, Cryptorchidism, Hip contracture, Tics, Restlessness, Motor stere... |
OMIM:259050 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Nephrocalcinosis, Choroidal neovascularization, Retinal crystals, Hyperoxaluria, R... |
OMIM:259900 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| African Trypanosomiasis |
|
Keratitis, Abnormality of the menstrual cycle, Infertility, Renal insufficiency, Tremor, Aggressi... |
ORPHA:3385 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder, Tremor, Sensorineural hearing impairment |
OMIM:618527 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Abnormal vestibulo-ocular reflex, Decreased amplitude of sensory action potentials |
OMIM:608984 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Ketonuria, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Myoglobinu... |
OMIM:616878 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Wide nasal bridge, Clitoral hypertrophy, Toe syndactyly, Renal agenesis, Horseshoe kidney, Bulbou... |
ORPHA:140952 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa... |
ORPHA:508 |
| Melas |
|
Nephropathy, Optic atrophy, Pigmentary retinopathy, Proximal tubulopathy, Focal segmental glomeru... |
ORPHA:550 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:610042 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy |
OMIM:619725 |
| Dend Syndrome |
|
Hyperglycemia, Thickened ears |
ORPHA:79134 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly |
OMIM:245552 |
| X-Linked Intellectual Disability, Snyder Type |
|
Pectus carinatum, Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, L... |
ORPHA:3063 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aplasia of the ovary, Elevated circulating growth ... |
ORPHA:79318 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Facial diplegia, Corneal opacity |
ORPHA:31150 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... |
ORPHA:648 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Cataract, Hearing impairment, Neonatal death, EEG abnormality, Rod-cone dystrophy,... |
OMIM:124000 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Neonatal death, Lacticaciduria, Optic disc pallor, Dystonia |
OMIM:619167 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination, Emotional lability, Decreased nerve conduction velocity |
OMIM:250100 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Hearing impairment, Optic disc pallor, Optic neuropathy, Choreoathetosis |
OMIM:618249 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Sensorineural hearing impairment, Neurogenic bladder, Rod-... |
ORPHA:96180 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect |
ORPHA:436252 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Absent thumb, Renal agenesis, Abnormalit... |
ORPHA:124 |
| Loeys-Dietz Syndrome 2 |
|
Pectus carinatum, Joint contracture of the hand, Abnormal sternum morphology, Umbilical hernia, I... |
OMIM:610168 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Papilledema |
OMIM:620366 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Preaxial hand polydactyly |
ORPHA:79113 |
| Cog1-Cdg |
|
Posterior rib gap, Osteopenia, Rhizomelia, Hepatosplenomegaly, Micrognathia, Butterfly vertebrae,... |
ORPHA:263508 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micrognathia, Increased femo... |
OMIM:619005 |
| Fontaine Progeroid Syndrome |
|
Low-set ears, Small scrotum, Micrognathia, Cryptorchidism, Neonatal death, Hypoplastic labia majo... |
OMIM:612289 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Coffin-Siris Syndrome 12 |
|
Low-set ears, Broad thumb, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Radiou... |
OMIM:619325 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Slender finger, Clinodactyly, Short finger, Bulbous nose, Narrow nose, Micrognathia, Single trans... |
OMIM:615656 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Low-set ears, Flared nostrils, 2-3 toe cutaneous syndactyly, 2-4 toe cutaneous syndactyly, Hand t... |
OMIM:614756 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Moderate albuminuria, Small scrotum, Hypogonadism, EEG with burst suppression, Ext... |
OMIM:614231 |
| Intellectual Developmental Disorder With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy, Ptosis |
OMIM:609037 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Micrognathia, Proximal placement of thumb, Preaxial hand polydactyly |
OMIM:610536 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly |
OMIM:618820 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Myocardial infarction, Scapular winging, Partial anomalous pulmonary venou... |
OMIM:150230 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Multiple glomerular cysts, Sensorineural hearing impairmen... |
ORPHA:255210 |
| 1P31P32 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Ocular hypertension, Abnormality of the urinary system,... |
ORPHA:401986 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Left atrial isomerism, Atrioventricular canal defect, Situs inversus totalis, Mesocardia, Transpo... |
OMIM:605376 |
| Cowden Syndrome |
|
Abnormal penis morphology, Cataract, Adenoma sebaceum, Hearing impairment, Abnormality of the ute... |
ORPHA:201 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, Cataract, 3-Methylglutaconic aciduria, Neonatal death, Sensorineural h... |
OMIM:617248 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur... |
ORPHA:47159 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Recurrent upper respiratory tract infections, Hypoplastic scapulae, Finge... |
OMIM:256040 |
| Rett Syndrome |
|
Failure to thrive, Bruxism, Stereotypical hand wringing, Motor stereotypy, Agitation |
ORPHA:778 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity |
OMIM:615812 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... |
ORPHA:411634 |
| Rett Syndrome, Congenital Variant |
|
Protruding ear, Bruxism, Tongue thrusting, Motor stereotypy |
OMIM:613454 |
| Spinocerebellar Ataxia 6 |
|
Vertigo, Abnormal vestibulo-ocular reflex, Dysphagia, Intention tremor |
OMIM:183086 |
| Mednik Syndrome |
|
Cataract, Death in childhood, Death in infancy, Neonatal death, Sensorineural hearing impairment |
OMIM:609313 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, EEG abnormalit... |
ORPHA:314655 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Limb dy... |
ORPHA:457351 |
| Shprintzen Omphalocele Syndrome |
|
Narrow chest, Omphalocele |
OMIM:182210 |
| Vestibulocochlear Dysfunction, Progressive |
|
Tinnitus, Vestibular areflexia, Progressive hearing impairment |
OMIM:193005 |
| Ulnar-Mammary Syndrome |
|
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Short 5th finger, ... |
OMIM:181450 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Methylmalonic aciduria, 3-Methylglutaconic aciduria,... |
ORPHA:17 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Depressed nasal bridge, Hearing impairment, Vertigo, Tinnitus, Opacification of the corneal stroma |
ORPHA:79280 |
| Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
| Leptospirosis |
|
Acute kidney injury, Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Optic neu... |
ORPHA:509 |
| Pontocerebellar Hypoplasia Type 7 |
|
Wide nasal bridge, Optic atrophy, Clitoral hypertrophy, Depressed nasal bridge, Microphallus, Gon... |
ORPHA:284339 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Conjunctival icterus, Underdeveloped nasal alae, Septate vagina, Hypoplasia... |
OMIM:243800 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract, Conductive hearing impairment, Bilateral cryptorchidism, Hypogonadism, Hip contracture,... |
ORPHA:3042 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Failure to thrive, Hypoglycemia, Hyperglycemia, Recurrent hand flapping... |
ORPHA:3008 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Depression |
OMIM:604121 |
| Bent Bone Dysplasia Syndrome 1 |
|
Abnormally large globe |
OMIM:614592 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Horizontal eyebrow, Almond-shaped palpebral fissure, Self-mutilation, Epicanthus, Repetitive comp... |
ORPHA:522077 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic kidney dise... |
OMIM:608612 |
| Immunoglobulin A Vasculitis |
|
Optic atrophy, Renal insufficiency, Orchitis, Hematuria, Proteinuria, Glomerulopathy, Anorexia |
ORPHA:761 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Vestibular areflexia, Sensorineural hearing impairment |
OMIM:609006 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, ... |
OMIM:227810 |
| Coffin-Lowry Syndrome |
|
Pectus carinatum, Bifid sternum, Inguinal hernia, Uterine prolapse, Single transverse palmar crea... |
OMIM:303600 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
| Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the external auditory canal, ... |
OMIM:301022 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age |
ORPHA:391673 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Low-set ears, Hair-pulling, Protruding ear, Motor stereotypy, Hyperactivity, Urinary incontinence... |
ORPHA:447997 |
| Spinocerebellar Ataxia 27A |
|
Postural tremor, Abnormal vestibulo-ocular reflex |
OMIM:193003 |
| Meningioma |
|
Secondary growth hormone deficiency, Impotence, Neurofibroma, Increased circulating prolactin con... |
ORPHA:2495 |
| Loeys-Dietz Syndrome 1 |
|
Pectus carinatum, Abnormal sternum morphology, Inguinal hernia, Mitral valve prolapse, Arachnodac... |
OMIM:609192 |
| Collagenoma, Familial Cutaneous |
|
Primary testicular failure, Iris atrophy |
OMIM:115250 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Umbilical hernia, Hydr... |
OMIM:619991 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:98784 |
| Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex |
OMIM:164150 |
| Aicardi-Goutières Syndrome |
|
Glaucoma, Developmental glaucoma |
ORPHA:51 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hip dislocation |
OMIM:300322 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Addictive alcohol use |
ORPHA:90065 |
| Faciocardiomelic Syndrome |
|
Narrow chest, Slender long bone, Micrognathia, Hypoplastic pelvis, Polydactyly |
OMIM:612731 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Agitation, Hyperactivity, Impulsivity |
OMIM:620423 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ptosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Iris atrophy |
OMIM:146500 |
| Classical Ehlers-Danlos Syndrome |
|
Abnormal cornea morphology, Abnormality of the temporomandibular joint, Uterine prolapse, Bladder... |
ORPHA:287 |
| Craniosynostosis And Dental Anomalies |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclu... |
OMIM:614188 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele |
ORPHA:3164 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Cancer-Associated Retinopathy |
|
Optic atrophy, Uterine neoplasm, Foveal hyporeflective spaces on macular OCT, Pancreatic adenocar... |
ORPHA:71505 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Writer's cramp |
ORPHA:428 |
| Hamamy Syndrome |
|
Complete atrioventricular canal defect, Atrial septal defect |
OMIM:611174 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Retrognathia, Protruding ear, Hypogonadotropic hypogonadism, Attention de... |
OMIM:301030 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Developmental glaucoma |
ORPHA:1772 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Increased axial length of the globe, Hyperplasia of the maxilla, Recurren... |
ORPHA:513456 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Choanal atresia, Small hand, Retrognathia, Clinodactyly, Broad hallux, Narrow nose, Anteverted na... |
OMIM:301044 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormally large globe |
OMIM:239300 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Hyperglycemia, Obesity, Sensorineural hearing impairment, Po... |
ORPHA:293987 |
| Mandibuloacral Dysplasia |
|
Abnormally large globe |
ORPHA:2457 |
| Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Ectrodactyly, Cryptorchidism, Gonadotropin deficien... |
OMIM:615465 |
| Developmental And Epileptic Encephalopathy 100 |
|
Depressed nasal bridge, Small hand, Broad nasal tip, Elbow flexion contracture, Micrognathia, EEG... |
OMIM:619777 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal pulmonary valve morphology, Splenomegaly, Osteopetrosis, Abnormal rib morp... |
ORPHA:667 |
| Developmental And Epileptic Encephalopathy 2 |
|
Small hand, Anteverted nares, Hypsarrhythmia, EEG with generalized slow activity, Short foot, Mot... |
OMIM:300672 |
| Semilobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect |
ORPHA:93924 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Low-set ears, Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Dysphagia, Hypospadias, ... |
OMIM:220111 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Renal insufficiency |
ORPHA:440713 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
| Treacher Collins Syndrome 1 |
|
Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Bilateral... |
OMIM:154500 |
| Neonatal Marfan Syndrome |
|
Downslanted palpebral fissures, Iridodonesis, Ectopia lentis, Megalocornea |
ORPHA:284979 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Dysphagia |
OMIM:607625 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Urinary retention, Obesity, Decreased urinary potassium, Weight loss |
ORPHA:79102 |
| Nmda Receptor Encephalitis |
|
Testicular teratoma, Ovarian teratoma, Oculogyric crisis, Orthostatic tachycardia, EEG with tempo... |
ORPHA:217253 |
| Holoprosencephaly 1 |
|
Micropenis, Single ventricle, Microphthalmia |
OMIM:236100 |
| Atypical Werner Syndrome |
|
Glycosuria, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyp... |
ORPHA:79474 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Ectopic anterior pituitary gland |
OMIM:620558 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Bulbous nose, Overlapping toe, Cryptorchidism, Proteinuria, Clinodactyly of t... |
OMIM:616682 |
| Isolated Exencephaly |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Anterior pituitary hypoplas... |
ORPHA:563612 |
| Keppen-Lubinsky Syndrome |
|
Abnormally large globe |
OMIM:614098 |
| Keppen-Lubinsky Syndrome |
|
Abnormally large globe |
ORPHA:435628 |
| Bartter Syndrome, Type 2, Antenatal |
|
Abnormally large globe |
OMIM:241200 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Oral-pharyngeal dy... |
ORPHA:199306 |
| Orofacial Cleft 11 |
|
Cleft palate |
OMIM:600625 |
