| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:300085 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
| Macular Dystrophy, Patterned, 2 |
|
Foveal hyperpigmentation, Drusen |
OMIM:608970 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Senior-Loken Syndrome 5 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Abnormality of bon... |
ORPHA:3156 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Nephronophthisis 15 |
|
Retinal degeneration, Nephronophthisis, Hepatic failure |
OMIM:614845 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
| Rhyns Syndrome |
|
Osteopenia, Rod-cone dystrophy, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Osteopenia, Renal cortical hyperechogenicity, Bet... |
OMIM:611555 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... |
OMIM:615862 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Rod-cone dystrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri... |
OMIM:614817 |
| Joubert Syndrome 15 |
|
Retinopathy, Retinal dystrophy, Nephronophthisis, Micropenis |
OMIM:614464 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Nephronophthisis, Retinal dystrophy, Tubulointerstitial... |
OMIM:616629 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Retinal dystrophy |
OMIM:614465 |
| Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Joint laxity, Shyness |
OMIM:618221 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Elevated... |
OMIM:619902 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Rod-cone dystrophy, Osteopenia, Renal insufficiency |
OMIM:602152 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300425 |
| Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608636 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Rod-cone dystrophy, ... |
OMIM:616307 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Retinal degeneration, Polyuria, Tubular basement membran... |
OMIM:613550 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... |
OMIM:120330 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Retinal dystrophy, Tubulointers... |
OMIM:266900 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
| Joubert Syndrome 7 |
|
Renal cyst, Retinal dystrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611560 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Gout, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small m... |
OMIM:603860 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
| Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Retinal degeneration, Nephronophthisis, Hepatic failure |
OMIM:615630 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Flexion contracture, Renal dysplasia |
OMIM:616733 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Optic disc pallor, Renal cyst, Elevated hepatic tran... |
OMIM:216360 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
| Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Nephronophthisis, Osteoporosis, Polycystic kidney dysplasia... |
OMIM:184260 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedulla... |
OMIM:208085 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Retinal degeneration, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
| Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616217 |
| Hsd10 Disease |
|
Optic atrophy, Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid, Abno... |
ORPHA:391417 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... |
OMIM:613159 |
| Unilateral Focal Polymicrogyria |
|
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment, Urinary incon... |
ORPHA:268947 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... |
ORPHA:439232 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Elevated circulating alkaline phosphatase concentration, R... |
ORPHA:84081 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Abnormal bone ossification, Nephronophthisis, Reduced bone mineral dens... |
ORPHA:1505 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
| Arima Syndrome |
|
Renal tubular atrophy, Nephronophthisis, Retinal dystrophy, Tubulointerstitial fibrosis, Polycyst... |
OMIM:243910 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... |
OMIM:610188 |
| Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300495 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology, Flexion contracture |
ORPHA:79243 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Optic disc coloboma, Retinal dystrophy, Renal cyst, Renal insufficiency, Chorio... |
OMIM:608091 |
| Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Ketonuria, Abnormal nonverbal communicative behavior |
OMIM:608049 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren... |
OMIM:618733 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness |
OMIM:618010 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Craniosynostosis, Reduced renal corticomedullary differentiation, Osteopenia, M... |
OMIM:266920 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Elevated hepatic transaminase |
OMIM:617397 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
| Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, Joint laxity, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:600740 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... |
OMIM:602522 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Shyness, Generalized joint laxity |
ORPHA:280763 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Fused cervical vertebrae, Abnormal social behavior |
ORPHA:530983 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation, Hepatic failure |
OMIM:619758 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Abnormal social behavior |
ORPHA:255 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis, Hypospadias, Shyness |
ORPHA:163971 |
| Degcags Syndrome |
|
Chordee, Chronic kidney disease, Abnormal renal medulla morphology, Tracheomalacia, Craniosynosto... |
OMIM:619488 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Optic atrophy... |
ORPHA:309271 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Urinary incontinence, Progressive psychomotor deterioration, Abnormal social behavior |
ORPHA:309263 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Limited elbow extension, Abnormal re... |
OMIM:122470 |
| Alagille Syndrome 1 |
|
Renal tubular acidosis, Hepatic failure, Chorioretinal atrophy, Pigmentary retinopathy, Renal dys... |
OMIM:118450 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Shyness, Micropenis |
OMIM:300978 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Cognitive impairment, Recurrent urinary tract inf... |
ORPHA:731 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Abnormal social behavior, Renal dysplasia, Radioulnar synostosis, Joint hype... |
ORPHA:96263 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Flexion contracture, Hypospadias, Recurrent urinary tract infections, Joint lax... |
OMIM:619293 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Achromatic retinal patches, Renal angiomyolipo... |
OMIM:613254 |
| Fg Syndrome Type 1 |
|
Abnormal social behavior, Generalized joint laxity, Craniosynostosis, Hypospadias, Optic nerve hy... |
ORPHA:93932 |
| Koolen-De Vries Syndrome |
|
Overfriendliness, Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Vertebral... |
ORPHA:96169 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation |
OMIM:620047 |
| 49,Xxxxy Syndrome |
|
Overfriendliness, Renal hypoplasia/aplasia, Hypoplasia of penis, Radioulnar synostosis, Renal dys... |
ORPHA:96264 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Abnormality of the kidney, Hypospadias, Optic atrophy |
OMIM:123450 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Urinary incontinence, Abnormal social behavior |
ORPHA:309256 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Abnormal social behavior |
ORPHA:64280 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Abnormal social behavior, Abnormality of the kidney, Renal angiomyolipoma... |
ORPHA:805 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Overfriendliness, Camptodactyly |
ORPHA:369891 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Macular hypoplasia, Uraciluria, Abnormal social be... |
ORPHA:1675 |
| White-Sutton Syndrome |
|
Overfriendliness, Rod-cone dystrophy, Optic nerve hypoplasia, Duplicated collecting system, Joint... |
OMIM:616364 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Joint laxity, Shyness, Poor eye contact |
ORPHA:449291 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Joint hypermobility |
OMIM:616579 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Tracheomalacia, Craniosynostosis, Abnormal social behavior, Hypospadias, Recurr... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Tracheomalacia, Craniosynostosis, Abnormal social behavior, Hypospadias, Recurr... |
ORPHA:363958 |
| Orofaciodigital Syndrome V |
|
Overfriendliness, Horseshoe kidney, Optic disc coloboma |
OMIM:174300 |
| Early-Onset Schizophrenia |
|
Lack of peer relationships, No social interaction, Shyness, Cognitive impairment |
ORPHA:96369 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Shyness |
OMIM:616831 |
| Trichothiodystrophy |
|
Multiple joint contractures, Impaired social reciprocity, Increased bone mineral density, Macular... |
ORPHA:33364 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Abnormal nonverbal communicative behavior |
ORPHA:485421 |
| Niemann-Pick Disease Type C |
|
Cognitive impairment, Mental deterioration, Abnormal social behavior, Hepatic failure, Progressiv... |
ORPHA:646 |
| Williams Syndrome |
|
Abnormal social behavior, Osteopenia, Radioulnar synostosis, Proteinuria, Overfriendliness, Joint... |
ORPHA:904 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormality of the kidney, Impaired social interactions, Abnormal social behavior |
ORPHA:177907 |
| Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Dermatan sulfate excretion in urine, Vitreous floaters |
OMIM:619698 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Osteopenia, Abnormal nonverbal communicat... |
ORPHA:99413 |
| Turner Syndrome |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Osteopenia, Abnormal nonverbal communicat... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Osteopenia, Abnormal nonverbal communicat... |
ORPHA:99228 |
| Monosomy X |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Osteopenia, Abnormal nonverbal communicat... |
ORPHA:99226 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| 1P21.3 Microdeletion Syndrome |
|
Shyness, Joint hypermobility |
ORPHA:293948 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Van Esch-O'Driscoll Syndrome |
|
Poor eye contact, Shyness |
OMIM:301030 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Synostosis involving the 1st metacarpal, Joint laxity, Shyness |
ORPHA:466791 |
