| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| 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 |
|
Rod-cone dystrophy, Cone dystrophy |
OMIM:300155 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| 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, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Rod-cone dystrophy, Nephronophthisis |
OMIM:609254 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Nephronophthisis 15 |
|
Retinal degeneration, Elevated circulating hepatic transaminase concentration, Nephronophthisis |
OMIM:614845 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality of retinal ... |
ORPHA:3156 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration |
OMIM:614844 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Nephronophthisis, Rod-cone dystrophy |
ORPHA:140976 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... |
OMIM:611555 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl... |
OMIM:614817 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Nephronophthisis, Macular degeneration, Stage 5 chronic kidney disease, Rod-cone dyst... |
OMIM:616629 |
| Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Renal cortical ... |
OMIM:613824 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Rod-cone dystrophy |
OMIM:606996 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Retinit... |
OMIM:615862 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... |
OMIM:617610 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Retinal dystrophy |
OMIM:614465 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis, Retinopathy, Retinal dystrophy |
OMIM:614464 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated circulating hepatic transaminase concentration, Hyperechogenic kidneys, Reduced renal co... |
OMIM:619902 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Reduced social reciprocity, Joint hypermobility |
OMIM:606053 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Dementia, Reduced social reciprocity, Motor deterioration, Social and occup... |
ORPHA:168782 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... |
OMIM:616307 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Reduced social reciprocity |
OMIM:618103 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency, Abnormality of retinal pigmentation |
ORPHA:474 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin... |
OMIM:613550 |
| Rhyns Syndrome |
|
Chronic kidney disease, Osteopenia, Nephronophthisis, Renal insufficiency, Rod-cone dystrophy, Os... |
OMIM:602152 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Macular dege... |
OMIM:120330 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Retinal dystrophy, Nephronophthisis |
OMIM:611560 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... |
OMIM:603860 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic failure, Nephronophthisis, Retinal degeneration |
OMIM:615630 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Stage 5 chronic kidney disease, Retinal dystrophy, Nephronophthisis |
OMIM:608629 |
| Hsd10 Disease |
|
Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Short attention span, Abnormal urinary acy... |
ORPHA:391417 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia |
OMIM:616733 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Nephronophthi... |
OMIM:216360 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Reduced social reciprocity |
OMIM:608636 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Joint hypermobility, Osteoporosis, Polycystic kidney dysplasia, Delayed ossific... |
OMIM:184260 |
| Joubert Syndrome 6 |
|
Retinal degeneration, Stage 5 chronic kidney disease, Chorioretinal coloboma, Nephronophthisis |
OMIM:610688 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Elevated circulating hepatic transaminase concentration... |
ORPHA:84081 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevated circulating... |
OMIM:208085 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior |
ORPHA:444002 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Abnormal medullary pyramid morphology |
ORPHA:79243 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Reduced social reciprocity |
OMIM:611092 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Retinal coloboma, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced... |
OMIM:610188 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Renal insuffic... |
OMIM:263200 |
| Arima Syndrome |
|
Optic atrophy, Nephronophthisis, Chorioretinal coloboma, Stage 5 chronic kidney disease, Renal so... |
OMIM:243910 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Reduced social reciprocity |
OMIM:617820 |
| Foxg1 Syndrome |
|
Optic disc hypoplasia, Paroxysmal bursts of laughter, Cognitive impairment, Reduced social recipr... |
ORPHA:561854 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Osteopetrosis |
OMIM:618541 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:137831 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Chorioretinal coloboma, Optic disc coloboma, Renal insufficiency, Renal cyst, R... |
OMIM:608091 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Reduced social reciprocity |
ORPHA:397933 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Abnormal renal corticomedullary differen... |
OMIM:617397 |
| Neuromuscular Oculoauditory Syndrome |
|
Retinal pigment epithelial mottling, Reduced renal corticomedullary differentiation, Knee flexion... |
OMIM:618733 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Acute kidney injury, Nephronophthisis, Macular degeneration, Stage 5 chronic kidney d... |
OMIM:266920 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior |
ORPHA:1020 |
| 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 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Hepatic failure, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insufficiency, Nephrolit... |
OMIM:600740 |
| Cranioectodermal Dysplasia 3 |
|
Joint hypermobility, Stage 5 chronic kidney disease, Sagittal craniosynostosis, Nephronophthisis |
OMIM:614099 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Abnormal social behavior, Fused cervical vertebrae |
ORPHA:530983 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Reduced social reciprocity |
ORPHA:329249 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis, Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:163976 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Progressive psychomotor deterioration, Short attention span, Urinary incontinence,... |
ORPHA:309263 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Reduced social reciprocity |
ORPHA:544254 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Reduced social reciprocity |
OMIM:617051 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Memory impairment, Dementia, Progressive psychomotor deterioration, Short attentio... |
ORPHA:309271 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Degcags Syndrome |
|
Chronic kidney disease, Osteopenia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal ... |
OMIM:619488 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Attention deficit hyperactivity disorder, Short attention span, Reduced social reciprocity, Brady... |
OMIM:617854 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:64280 |
| 48,Xxxy Syndrome |
|
Joint hypermobility, Radioulnar synostosis, Attention deficit hyperactivity disorder, Hypoplasia ... |
ORPHA:96263 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Attention deficit hyperactivity disorder, Renal cyst, Achromatic retinal pa... |
OMIM:613254 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Generalized joint hypermobility, Attention deficit hypera... |
ORPHA:93932 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Reduced social reciprocity, Joint hypermobility |
ORPHA:254531 |
| Cornelia De Lange Syndrome 1 |
|
Optic atrophy, Renal hypoplasia, Optic disc coloboma, Elbow flexion contracture, Reduced renal co... |
OMIM:122470 |
| Lead Poisoning |
|
Chronic kidney disease, Memory impairment, Cranial hyperostosis, Renal tubular dysfunction, Reduc... |
ORPHA:330015 |
| 47,Xyy Syndrome |
|
Reduced social reciprocity, Attention deficit hyperactivity disorder, Micropenis, Hypospadias, Co... |
ORPHA:8 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Duplicated collecting system, Hepatic failure, Elevated circu... |
OMIM:118450 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Acute kidney injury, Oliguria, Recurrent urinary tract ... |
ORPHA:731 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... |
OMIM:219730 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Elbow contracture, Reduced social reciprocity, Diminished ability to concentra... |
OMIM:615656 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Craniosynostosis, Multicystic kidney dysplasia, Reduced... |
ORPHA:261197 |
| Young-Onset Parkinson Disease |
|
Frontal lobe dementia, Short attention span, Reduced social reciprocity, Cognitive impairment, De... |
ORPHA:2828 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Reduced social reciprocity, Joint hypermobility, Attention deficit hyperact... |
ORPHA:449291 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Chorioretinal hypopigmentation, Stage 5 chronic kidney disease, Renal ins... |
ORPHA:805 |
| Atypical Rett Syndrome |
|
Inappropriate laughter, Reduced social reciprocity |
ORPHA:3095 |
| Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity, Joint hypermobility |
OMIM:618798 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Optic atrophy, Abnormal social behavior |
ORPHA:309256 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cognitive impairment, Reduced social reciprocity |
OMIM:615157 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Renal m... |
OMIM:277000 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Joint stiffness, Arthrogryposis multiplex congenita, Reduced social reciprocity |
OMIM:614961 |
| Myoclonic-Astatic Epilepsy |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:1942 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Attention deficit hyperactivity disorder, Progressive language deterioration, Reduced social reci... |
OMIM:610042 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Elevated urinary creatine/creatinine ratio, Attention deficit hyperactivity disorder, Reduced soc... |
OMIM:300352 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Reduced social reciprocity |
OMIM:616083 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Short attention span, Reduced social reciprocity, Joint hypermobility, Delayed early-childhood so... |
ORPHA:300570 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Reduced social reciprocity |
OMIM:256600 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Tracheomalacia, Recurrent urinary tract infections, Inappropriate laughter, Vesico... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Tracheomalacia, Recurrent urinary tract infections, Inappropriate laughter, Vesico... |
ORPHA:363958 |
| Trichothiodystrophy |
|
Osteopenia, Macular degeneration, Multiple joint contractures, Reduced social reciprocity, Retina... |
ORPHA:33364 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Macular hypoplasia, Uraciluria, Abnormal social be... |
ORPHA:1675 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Micropenis, Inappropriate laughter, Short attention span, Reduced social reciprocity |
OMIM:156200 |
| Alg11-Cdg |
|
Elevated circulating hepatic transaminase concentration, Reduced social reciprocity |
ORPHA:280071 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Reduced social reciprocity, Joint hypermobility, Abnormality of the kidney... |
OMIM:606232 |
| Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Attention deficit hyperactivity disorder, Reduced social reciprocity, A... |
ORPHA:177907 |
| Williams Syndrome |
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Synostosis of joints, Overfriendliness, Radioulnar synostosis, Abnormal social behavior, Osteopen... |
ORPHA:904 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
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Reduced social reciprocity |
OMIM:619738 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Tracheomalacia, Reduced social reciprocity, Joint hypermo... |
ORPHA:96121 |
| Wagro Syndrome |
|
Proteinuria, Reduced social reciprocity, Nephroblastoma |
OMIM:612469 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Joint hypermobility, Flexion contracture, Reduced social reciprocity, Hyperextensibility of the f... |
OMIM:309520 |
| Congenital Disorder Of Deglycosylation 2 |
|
Reduced social reciprocity, Retinal coloboma |
OMIM:619775 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Hepatic failure, Low cholesterol este... |
ORPHA:646 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Reduced social reciprocity, Steroid-dependent nephrotic syndrome |
OMIM:300912 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Chorioretinal coloboma, Osteomyelitis, S... |
OMIM:619475 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Ret... |
ORPHA:353281 |
| Adnp Syndrome |
|
Recurrent urinary tract infections, Reduced social reciprocity, Joint hypermobility, Attention de... |
ORPHA:404448 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Memory impairment, Renal artery stenosis, Short attention span, Abnormal choroid morp... |
ORPHA:97685 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Reduced social reciprocity, Joint hypermob... |
OMIM:615873 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| Mucopolysaccharidosis, Type X |
|
Vitreous floaters, Dermatan sulfate excretion in urine, Nephrolithiasis |
OMIM:619698 |
| Rett Syndrome, Congenital Variant |
|
Reduced social reciprocity |
OMIM:613454 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Micropenis, Limitation of joint mobility, Reduced social reciprocity, Joint hypermobility |
ORPHA:457359 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Red... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Red... |
ORPHA:353277 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic atrophy, Optic disc coloboma, Camptodactyly of finger, Reduced social reciprocity, Ectopic ... |
OMIM:607872 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated circulating hepatic transaminase concentration, Enuresis, Reduced social reciprocity |
ORPHA:293987 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Vesicoureteral reflux, Renal duplic... |
ORPHA:2152 |
