Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Short stature, Holoprosencephaly |
OMIM:619033 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... |
OMIM:609637 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly, Tapered finger |
OMIM:300706 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Hartsfield Syndrome |
|
Encephalocele, Intrauterine growth retardation, Lobar holoprosencephaly |
ORPHA:2117 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Distal Deletion 13Q |
|
Encephalocele, Short stature, Anencephaly, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:1590 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Intrauterine growth retardation, Holoprosencephaly |
ORPHA:2570 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Ring Chromosome 21 Syndrome |
|
Azoospermia, Short stature, Holoprosencephaly, Abnormal heart morphology |
ORPHA:1445 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial ... |
ORPHA:93274 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enla... |
OMIM:613885 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
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 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
Distal Monosomy 7Q36 |
|
Cryptorchidism, Short stature, Holoprosencephaly |
ORPHA:1636 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly... |
ORPHA:3376 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... |
ORPHA:65759 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Growth delay,... |
ORPHA:77298 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Decreased testicular size, Alobar holoprosencephaly |
OMIM:615433 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis |
OMIM:614465 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga |
OMIM:601370 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Cryptorchidism, Short stature, Holoprosencephaly |
ORPHA:250999 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Renal cyst |
OMIM:614870 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Hydro... |
ORPHA:314588 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Holoprosencephaly, Situs inversus totalis |
OMIM:202650 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:250994 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation |
ORPHA:3032 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Monosomy 18P |
|
Short stature, Holoprosencephaly |
ORPHA:1598 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Hydrocephalus, Complete a... |
OMIM:264480 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi... |
ORPHA:261290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... |
OMIM:253800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel... |
ORPHA:228308 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Holoprosencephaly |
ORPHA:990 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp... |
OMIM:219730 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Holoprosencephaly |
ORPHA:2163 |
Microform Holoprosencephaly |
|
Intrauterine growth retardation, Tetralogy of Fallot, Short stature, Holoprosencephaly |
ORPHA:280200 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Holoprosencephaly, Short stature |
OMIM:612530 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Solitary Median Maxillary Central Incisor |
|
Short stature, Holoprosencephaly |
OMIM:147250 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly, Ectopic kidney |
OMIM:613730 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Holoprosencephaly, Atrial septal defect |
ORPHA:261236 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephal... |
OMIM:269860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... |
OMIM:608836 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
49,Xxxxy Syndrome |
|
Short stature, Cryptorchidism, Azoospermia, Holoprosencephaly, Decreased testicular size |
ORPHA:96264 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Intraute... |
OMIM:618651 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Cryptorchidism, Anencephaly, Growth delay... |
ORPHA:3380 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal... |
OMIM:243910 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes... |
OMIM:614815 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Single ventricle |
OMIM:619879 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal localization of kidney |
ORPHA:83473 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis, Ventr... |
OMIM:616546 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Postaxial p... |
OMIM:612651 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencepha... |
ORPHA:2166 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation |
OMIM:611134 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:619562 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Holoprosencep... |
OMIM:146510 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... |
OMIM:147791 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... |
ORPHA:26791 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia |
OMIM:276950 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventriculomegaly |
OMIM:606232 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencephaly, Radioulnar synostosis, Short ... |
OMIM:614701 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Ventriculomegaly |
OMIM:218350 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Growth delay, Holoprosencephaly, Subvalvular aortic stenosis, Atrial septal defect... |
ORPHA:1052 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... |
ORPHA:2162 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr... |
OMIM:616034 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Cryptorchidism, Renal cyst, Colpocephaly, Polycystic kidney dysplasia, Renal cortica... |
OMIM:614866 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Noncommunicating hydrocep... |
ORPHA:805 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Lobar holoprosencephaly, Growth delay, Neonatal death, Intrauterine growth retardation, Semilobar... |
OMIM:618500 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypopl... |
ORPHA:85284 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Steinfeld Syndrome |
|
Holoprosencephaly, Abnormal heart morphology |
OMIM:184705 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus |
ORPHA:2183 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Renal cyst |
OMIM:611561 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Growth delay, Holoprosencephaly, Umbilical hernia, Pat... |
OMIM:613884 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
Monosomy 13Q14 |
|
Intrauterine growth retardation, Short stature, Holoprosencephaly |
ORPHA:1587 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hypoplasia of the bladder, R... |
OMIM:249000 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Hydronephrosis, Ventriculomegaly |
OMIM:609757 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Coach Syndrome 2 |
|
Hydrocephalus, Hyperechogenic kidneys |
OMIM:619111 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Polycystic kidney d... |
OMIM:311200 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... |
OMIM:301043 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger |
OMIM:616362 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,... |
ORPHA:1926 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Patent ductus arteriosus, G... |
ORPHA:818 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodac... |
ORPHA:397590 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation, Nephritis, Ventriculomegaly |
OMIM:217090 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia |
OMIM:236500 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... |
ORPHA:3186 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... |
OMIM:169400 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
Hartsfield Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, Growth delay, Semilobar holopr... |
OMIM:615465 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Renal dysplasia, Micropenis |
OMIM:241800 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... |
OMIM:618142 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... |
OMIM:277170 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Hydronephrosis, Dandy-Walker malformation, Horseshoe kidney |
OMIM:614846 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hydrocephalus |
OMIM:269920 |
Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Charge Syndrome |
|
Short stature, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Postnatal growth re... |
ORPHA:138 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Chronic kidney disease, Ventriculomegaly, Nephronophthisis |
OMIM:615630 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Meningocele, Multicystic kidney dysplasia, Ventriculomegaly |
ORPHA:2031 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tubular acidosis,... |
OMIM:614922 |
Ring Chromosome 7 Syndrome |
|
Short stature, Situs inversus totalis, Hydrocele testis, Holoprosencephaly, Severe intrauterine g... |
ORPHA:1449 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Rhombencephalosynapsis |
|
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... |
ORPHA:59315 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Renal hypoplasia, Occipita... |
ORPHA:567 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Holoprosencephaly 9 |
|
Cryptorchidism, Hydrocephalus, Short stature, Holoprosencephaly |
OMIM:610829 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Mi... |
ORPHA:96149 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Abnormal... |
ORPHA:2437 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Situs inversus totalis, Cryptorchidism, Postaxial hand p... |
ORPHA:564 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Severe short stature, Lobar holoprosencephaly, Cryptorchidism |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... |
ORPHA:731 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... |
OMIM:107480 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Congenital megaureter, Hydronephrosi... |
ORPHA:261344 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Abnormality of the kidney, Ventriculomegaly |
ORPHA:2655 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Hypospadias, Hydronephrosis, Dandy-Walker malformation |
OMIM:220210 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hol... |
OMIM:615948 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Holoprosencephaly 1 |
|
Ethmocephaly, Single ventricle, Short stature, Alobar holoprosencephaly |
OMIM:236100 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Ogden Syndrome |
|
Global glomerulosclerosis, Ventriculomegaly, Cryptorchidism, Hydrocele testis, Polycystic kidney ... |
OMIM:300855 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal... |
OMIM:301044 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... |
ORPHA:2044 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Abnormality of the urinary system |
ORPHA:2184 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Renal hypoplasia, Renal cyst, Colpocephaly, Lateral ventricle dila... |
OMIM:210710 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Dandy-Walker malformation |
OMIM:614424 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Cryptorchidism, Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Single ventricle, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydrocephalus, Ventriculomegaly, Horseshoe kidney |
ORPHA:238769 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Hyperechogenic kidneys, Ventricul... |
OMIM:614576 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnormality of the kidn... |
ORPHA:322 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Ren... |
OMIM:609029 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Holoprosencephaly |
OMIM:618820 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial p... |
OMIM:616300 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism, Micropenis |
ORPHA:8 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Pelvic kidney |
OMIM:617244 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Syndromic Diarrhea |
|
Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra... |
ORPHA:672 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... |
OMIM:603671 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Hydrocephalus, Renal c... |
OMIM:257300 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Choroid plexus cyst, S... |
OMIM:267010 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Cryptorchidism, Paten... |
OMIM:214800 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:616222 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Dandy-Walker ma... |
ORPHA:459061 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Dandy-Walker malformation, Cys... |
OMIM:220500 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ... |
OMIM:608091 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly |
ORPHA:141099 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hip dysplasia, Polydactyly |
ORPHA:531151 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla... |
OMIM:615287 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:603387 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... |
ORPHA:2754 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist... |
ORPHA:404440 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Micropenis |
OMIM:619951 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Growth delay, Holoprosencephaly, Delayed puberty, Decreased testicular size |
ORPHA:95494 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy... |
OMIM:134780 |
Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis, Dandy-Wal... |
ORPHA:96170 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventr... |
ORPHA:7 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral... |
ORPHA:261494 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal dysplasia |
ORPHA:1335 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Joubert Syndrome 37 |
|
Cryptorchidism, Decreased testicular size, Postaxial polydactyly |
OMIM:619185 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... |
ORPHA:397715 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia |
ORPHA:3301 |
Trisomy 13 |
|
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... |
ORPHA:3378 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency |
ORPHA:2318 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias |
OMIM:313850 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:93400 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency |
ORPHA:220497 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, P... |
OMIM:300960 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Abnormality of the kidney, Ventriculomegaly |
ORPHA:1860 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism |
ORPHA:110 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Renal agenesis, Ventriculomegaly, Micropenis |
OMIM:300514 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hydrocephalus, Oligozoospermia, Ovaria... |
ORPHA:91348 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo... |
ORPHA:268810 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Micropenis |
OMIM:614969 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Micropenis |
OMIM:617822 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Postaxial polydactyly |
OMIM:615824 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Myelomeningocele, Hydrocep... |
OMIM:258040 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:899 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Hydrocephalus |
OMIM:614886 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Spina bifida, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ren... |
ORPHA:99776 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida |
ORPHA:2839 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr... |
ORPHA:3412 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Renal cyst, Renal dysplasia, Ventriculomegaly |
OMIM:617260 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Colpocephaly, Vesicoureteral reflux, Hydronep... |
OMIM:618460 |
Tenorio Syndrome |
|
Enuresis, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Hydrocephalus, Nephro... |
ORPHA:1454 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... |
ORPHA:261318 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Ventriculomegaly |
ORPHA:1812 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Micropenis, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... |
ORPHA:404448 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:2409 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Hydroc... |
OMIM:620305 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Micropenis |
OMIM:602361 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Long penis, Horseshoe kidney, ... |
OMIM:268300 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Micropenis, Penile hypospadias |
ORPHA:1692 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Dec... |
OMIM:617053 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Nephroblasto... |
ORPHA:314585 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Cryptorchidism, Split hand, Hand polydactyly, Split foot, Semilobar holoprosencep... |
OMIM:129900 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Hydrocephalus, Hors... |
OMIM:227646 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormal renal tubule morphology |
ORPHA:2720 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts |
OMIM:615415 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Hypoplasminogenemia |
|
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis... |
OMIM:618454 |
Dextrocardia |
|
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Dandy-Walker ma... |
ORPHA:2059 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464311 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy |
OMIM:212065 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
ORPHA:93932 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... |
ORPHA:2886 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
Desmosterolosis |
|
Hydrocephalus, Renal agenesis, Ventriculomegaly, Renal hypoplasia/aplasia |
ORPHA:35107 |
Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Nephropathy, Renal cyst, Occipital myelomeningocele |
OMIM:213300 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
H Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Azoospermia, Micropenis, Decreased testicular size, Enl... |
ORPHA:168569 |
Kinsship Syndrome |
|
Death in infancy, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasi... |
OMIM:619297 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal renal morphology |
OMIM:239300 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Camptodactyly, ... |
OMIM:247200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Ven... |
ORPHA:25 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:585 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464306 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing... |
OMIM:180849 |
Zellweger Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Mucopolysaccharidosis, Type Ii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:309900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland... |
ORPHA:2473 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia |
OMIM:300968 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly |
ORPHA:261197 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis, Ventriculomegaly |
ORPHA:261349 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:99880 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal renal morphology |
OMIM:207410 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Ovarian cyst, Enlarged ... |
OMIM:618188 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele, Neurogenic bladder |
OMIM:130720 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Absent outer dynein arms |
OMIM:244400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Cryptorchidism |
OMIM:248340 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hydrocephalus, Hydronephrosis |
ORPHA:250989 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:143 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Dandy-Walker malfor... |
OMIM:236670 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Subependymal nodules |
OMIM:191100 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa... |
OMIM:616580 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Subependymal... |
OMIM:613254 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... |
ORPHA:538 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Bilateral cryptorchidism, Cr... |
OMIM:614976 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Urinary incontinence |
OMIM:616482 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:77301 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:457284 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Culler-Jones Syndrome |
|
Cryptorchidism, Postaxial polydactyly |
OMIM:615849 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Nephrotic syndrome, Heavy protein... |
ORPHA:505248 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly |
OMIM:605627 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus, Unilateral renal agenesis |
OMIM:101800 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter |
ORPHA:1571 |
Hurler Syndrome |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:607014 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Hydronephrosis, ... |
ORPHA:96121 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:253220 |
Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Tapered finger, Cryptorchidism, Small hand, Genu valgum, Polydactyly, C... |
OMIM:615873 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Abnormality of the kidney, CSF pleocytosis, Hydro... |
ORPHA:228123 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1555 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Spina bifida, ... |
ORPHA:84 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:123790 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Renal hypoplasia, Unilateral renal agenesis, Micropenis |
OMIM:614083 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus, Micropenis |
ORPHA:1600 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Hydronephrosis |
OMIM:115150 |
Genitopatellar Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Hydronephrosis |
ORPHA:1340 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis |
OMIM:260660 |
Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis, D... |
ORPHA:264450 |
D-Bifunctional Protein Deficiency |
|
Renal cyst, Ventriculomegaly |
OMIM:261515 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ectopic kidney |
ORPHA:268249 |
Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Hydronephrosis, Ventriculomegaly |
OMIM:101200 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Hydronephrosis |
ORPHA:1780 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalu... |
ORPHA:95699 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Meningocele,... |
ORPHA:991 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Methylm... |
ORPHA:79282 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Hydroneph... |
ORPHA:2092 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hydronephrosis |
ORPHA:235 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Raine Syndrome |
|
Hydrocephalus, Hydroureter, Hydronephrosis |
OMIM:259775 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Hydrocephalus, Colpocephaly, Chordee, Micropenis |
OMIM:309801 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Ventriculomegaly |
OMIM:616975 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis, Hydronephrosis |
ORPHA:163979 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Choroid plexus cyst, Renal cyst, Micropenis, Nephrolithia... |
ORPHA:798 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Abnormal mitochondrial shape |
ORPHA:17 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd... |
OMIM:613610 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Fetal pyelectasis |
OMIM:619512 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Hydronephrosis, Da... |
OMIM:229850 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:305450 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Spina bifida, Testicular neoplasm, Cryptorchidis... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Spina bifida, Testicular neoplasm, Cryptorchidis... |
ORPHA:363958 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:579 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta, Multicystic kidney dysplasia |
OMIM:300373 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis... |
ORPHA:534 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Hydrocephalus, Proteinuria, Ventriculomegaly |
ORPHA:1272 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Hurler Syndrome |
|
Hydrocephalus, Mucopolysacchariduria |
ORPHA:93473 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida |
OMIM:162200 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... |
OMIM:610168 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Horseshoe kidney, Enlarged ... |
OMIM:306955 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Tapered finger, Abnormal toe morphology, Cryptorchidism, Polydactyly, 2-4 toe cuta... |
ORPHA:268261 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Mucopolys... |
ORPHA:581 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Postaxial polydactyly, Cryptorchidism, Postaxial hand polydactyly, Hydroce... |
OMIM:312870 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Horseshoe kid... |
ORPHA:3310 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Hydrocephalus |
ORPHA:536467 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Increased CSF lactate, Glycosuria |
ORPHA:699 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Enlarged kidney |
OMIM:261740 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Hypospadias, Multiple renal cysts |
ORPHA:955 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine |
OMIM:253200 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:137667 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Genu valgum, ... |
OMIM:619488 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Hydrocephalus, Renal hypoplasia, Micropenis |
OMIM:619321 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occul... |
ORPHA:500095 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
Rabson-Mendenhall Syndrome |
|
Polydactyly |
ORPHA:769 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
Limb Body Wall Complex |
|
Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Unilateral renal agenesis |
OMIM:154400 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Cryptorchidism |
ORPHA:2658 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Spina bifida, Cryptorchidism, Hydronephrosis, Ventriculomegaly |
ORPHA:2308 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353277 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph... |
OMIM:219000 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,... |
ORPHA:2750 |
Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Cryptorchidism, Hip dysplasia, Branchial anomaly, Talipes equinovarus |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Cryptorchidism, Hip dysplasia, Branchial anomaly, Talipes equinovarus |
ORPHA:352665 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Hydrocephalus, Renal agenesis |
OMIM:273395 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly |
ORPHA:2462 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hydronep... |
ORPHA:1606 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Dandy-... |
ORPHA:93271 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Unilateral renal agenesis |
ORPHA:261337 |
Legius Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia |
ORPHA:137605 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Horseshoe kidney |
ORPHA:1106 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Renal cyst, Hypospadias, Dandy-Walker malformation |
ORPHA:495875 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Hydrocephalus, Hematuria, Micropenis, Decreased CSF 5-methyltetrahydrofolate concent... |
OMIM:619475 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis |
OMIM:114290 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Autosomal Recessive Robinow Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Normal pressure hydrocephalus, Micropenis, Vent... |
OMIM:216400 |
Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney, Dandy-Walker malformation |
ORPHA:171929 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, Micropenis, Lateral ventricle dilatat... |
OMIM:147920 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Nephrolithiasis, Noncommunicating hydrocephalus, Hypercalciuria, Ventriculomegaly |
ORPHA:666 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cryptorchidism, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul... |
ORPHA:116 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Cryptorchidism, Hydrocephalus, Myelomeningocele, Horseshoe kidney, Bifid ur... |
OMIM:305600 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp... |
OMIM:619841 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Abnormal testis morphology |
ORPHA:2556 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Oligosacchariduria |
ORPHA:309282 |
Gaucher Disease |
|
Hematuria, Hydrocephalus, Proteinuria, Ventriculomegaly |
ORPHA:355 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... |
ORPHA:1596 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Hydronephrosis |
ORPHA:97360 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Normal pressure hydrocephalus, Micropenis |
OMIM:133540 |
Williams Syndrome |
|
Hypercalciuria, Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Pro... |
ORPHA:904 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, Po... |
OMIM:619534 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, My... |
ORPHA:2052 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Yunis-Varon Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Renal artery stenosis, Mic... |
ORPHA:3472 |
Meningioma |
|
Hydrocephalus, Urinary incontinence |
ORPHA:2495 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Ventriculomegaly |
ORPHA:457359 |
Costello Syndrome |
|
Renal insufficiency, Hydrocephalus, Ventriculomegaly |
OMIM:218040 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Fontaine Progeroid Syndrome |
|
Cryptorchidism, Hydrocephalus, Micropenis |
OMIM:612289 |
Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Abnormality of the upper urinary tract |
ORPHA:636 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Dandy-Walker malformation |
OMIM:264090 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Wide penis, Vesic... |
ORPHA:3455 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:194190 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation |
OMIM:607872 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi... |
ORPHA:199 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Hydronephrosi... |
OMIM:261540 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
C Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Anencephaly, Severe hydrocephalus, Hydronephrosis, Dandy-Walker malformation |
OMIM:236680 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Abnormality of the kidney |
OMIM:218600 |
Okamoto Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:2729 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Hydronephrosis |
OMIM:304120 |
Proteus Syndrome |
|
Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Macroorchidism |
ORPHA:744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus |
ORPHA:667 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus |
OMIM:208150 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus, Horseshoe kidney |
OMIM:619325 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Colpocephaly, Micropenis, Hydronephrosis |
OMIM:606170 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha... |
OMIM:164210 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... |
ORPHA:261537 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
Branchiooculofacial Syndrome |
|
Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... |
ORPHA:261552 |
Pallister-Killian Syndrome |
|
Hypospadias, Cryptorchidism, Renal cyst, Renal dysplasia, Ventriculomegaly |
OMIM:601803 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
Pmm2-Cdg |
|
Proteinuria, Nephrotic syndrome, Multiple renal cysts, Decreased testicular size, Dandy-Walker ma... |
ORPHA:79318 |
Spinocerebellar Ataxia Type 11 |
|
|
ORPHA:98767 |
Spinocerebellar Ataxia 11 |
|
|
OMIM:604432 |