| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy |
OMIM:618845 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Renal agenesis |
OMIM:601076 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy |
OMIM:600057 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Micropenis |
OMIM:618504 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:244200 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Renal Agenesis |
|
Proteinuria, Renal insufficiency, Unilateral renal agenesis, Renal agenesis, Bilateral renal agen... |
ORPHA:411709 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Micropenis |
OMIM:618142 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
| Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis |
OMIM:613680 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... |
OMIM:613092 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis |
OMIM:615993 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:618494 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Micropenis |
OMIM:308750 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis |
OMIM:616362 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperechogenic kidneys, Unilateral renal agenesis, Proximal tubulopathy, Death in infancy |
OMIM:614576 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Nephronophthisis, Multiple... |
OMIM:216360 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Death in infancy, Cystic renal dysplasia, Neonatal death |
OMIM:613730 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Organic aciduria, Neonatal death |
OMIM:617184 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Abnormality of the kidney, Micropenis, Horseshoe kidney, Unil... |
ORPHA:363444 |
| Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Unilateral renal agenes... |
OMIM:113650 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Neonatal death |
OMIM:615228 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Death in infancy, Neonat... |
OMIM:613390 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Hyperactivity |
OMIM:615924 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta... |
OMIM:137920 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal agenesis, Renal hyp... |
OMIM:617666 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:609029 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Schizophrenia 1 |
|
Ectopic kidney, Partially duplicated kidney, Renal agenesis |
OMIM:181510 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:308700 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Renal agenesis |
OMIM:608980 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis |
OMIM:619227 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Unilateral renal agenesis, Micropenis |
OMIM:619951 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis |
OMIM:617190 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Micropenis, Renal hypoplasia |
ORPHA:96170 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Neonatal death |
OMIM:616287 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:616541 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Renal dysplasia, Renal agenesis |
ORPHA:2578 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria |
ORPHA:79284 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Rena... |
ORPHA:2237 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Renal cyst, Renal insufficiency, Death in infancy, Neonatal death, Renal dysp... |
OMIM:614922 |
| Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of... |
OMIM:614527 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Neonatal death |
OMIM:620024 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Neonatal death, Hypospadias |
OMIM:619334 |
| Takenouchi-Kosaki Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias |
OMIM:616737 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Death in adolescence, Neonatal death |
OMIM:619751 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Neonatal death |
OMIM:619003 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Death in infancy, Neonatal death |
OMIM:614096 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis |
OMIM:619362 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Vesicoureteral reflux, Renal hypoplasia |
ORPHA:85284 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Death in infancy, Neonatal death |
OMIM:242500 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias |
ORPHA:464311 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:614083 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis |
OMIM:101800 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias |
ORPHA:464306 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... |
ORPHA:2842 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
| 7Q11.23 Microduplication Syndrome |
|
Enuresis, Hydronephrosis, Unilateral renal agenesis, Hypospadias |
ORPHA:96121 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal renal collecting system morphology, Microphallus, Unilateral renal agenesis, Pelvic kidn... |
ORPHA:468631 |
| Cockayne Syndrome Type 3 |
|
Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater... |
ORPHA:90324 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Neonatal death |
OMIM:602199 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis |
OMIM:619194 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Dilatation of the renal pelvis, Micropenis, Unilateral renal agenesis, Stillbirth, Vesicoureteral... |
ORPHA:95699 |
| Smith-Lemli-Opitz Syndrome |
|
Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Ureteropelvic junction obstructi... |
OMIM:270400 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis |
OMIM:618419 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis |
OMIM:181270 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis |
OMIM:213980 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias |
ORPHA:487796 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Micropenis, Death in infancy, Neonatal death, Glandular hypospadias, Penile hypospadias, Hypospadias |
OMIM:300219 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis |
ORPHA:457284 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Micropenis, Hypospadias |
OMIM:151100 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Serkal Syndrome |
|
Abnormal penis morphology, Renal agenesis, Hypoplasia of the bladder, Hypospadias |
ORPHA:139466 |
| Cockayne Syndrome |
|
Proteinuria, Abnormal renal physiology, Neurogenic bladder, Urinary incontinence, Renal insuffici... |
ORPHA:191 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Death in infancy, Methylmalonic aciduria, Neonatal death, Lacticaciduria |
OMIM:245400 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Dilatation of the renal pelvis, Micropenis, Unilateral renal ... |
ORPHA:268261 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Renal cortical cysts, Glycosuria, Glutaric aciduria, Neonatal death,... |
OMIM:231680 |
| Zttk Syndrome |
|
Horseshoe kidney, Polyuria, Unilateral renal agenesis |
OMIM:617140 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in childhood, Unilateral renal agenesis, Death in infancy, Neonatal death, Renal dysplasia,... |
OMIM:308205 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death |
OMIM:314390 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis |
ORPHA:261337 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis |
OMIM:154400 |
| Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bladder diverticulum, Pyelonephritis |
ORPHA:90348 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
| Proboscis Lateralis |
|
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis |
ORPHA:141099 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Death in infancy, Neonatal death, Increased urine alpha-ketoglutarate... |
OMIM:605711 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormality of the kidney, Pelvic kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, ... |
ORPHA:508488 |
| Afibrinogenemia, Congenital |
|
Death in childhood, Death in infancy, Death in adolescence, Neonatal death |
OMIM:202400 |
| Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
| Fetal Gaucher Disease |
|
Stillbirth, Death in infancy, Neonatal death |
ORPHA:85212 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
| Lymphatic Malformation 12 |
|
Death in adolescence, Neonatal death |
OMIM:620014 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Bilateral renal dysplasia |
ORPHA:500150 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micropenis, Neonatal death |
OMIM:618810 |
| Pallister-Hall Syndrome |
|
Micropenis, Ectopic kidney, Unilateral renal agenesis, Renal dysplasia, Bilateral renal agenesis,... |
ORPHA:672 |
| Digeorge Syndrome |
|
Renal dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis |
OMIM:188400 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Horseshoe kidney, Neonatal death, Renal malrotation, Pelvic kidney, Renal hypoplasia |
OMIM:601186 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Pelvic kidney, Urinary urgency, Micropenis, Unilateral renal agenesis |
OMIM:619503 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death |
OMIM:253310 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... |
OMIM:208540 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary sulfite, Increased urinary hypoxanthine, Neonatal death, Decreased urinary urat... |
OMIM:252160 |
| Abcd Syndrome |
|
Neonatal death |
OMIM:600501 |
| Meacham Syndrome |
|
Death in childhood, Enlarged kidney, Horseshoe kidney, Death in infancy, Neonatal death, Stillbirth |
OMIM:608978 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Coronal hypospadias, Neonatal death |
OMIM:619859 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria, Neonatal death |
OMIM:619167 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Neonatal death |
OMIM:615501 |
| Pallister-Hall Syndrome |
|
Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Neonatal death, Renal dyspla... |
OMIM:146510 |
| Lumbar Syndrome |
|
Renal duplication, Micropenis, Bladder exstrophy, Vesicoureteral reflux, Renal agenesis, Hypospadias |
ORPHA:83628 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Neonatal death |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Neonatal death |
OMIM:618839 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Death in adolescence, Death in infancy, Neonatal death, Aminoaciduria |
OMIM:619055 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria |
ORPHA:99646 |
| Mednik Syndrome |
|
Death in childhood, Death in infancy, Neonatal death |
OMIM:609313 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal death |
OMIM:265120 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Death in infancy, Neonatal death |
OMIM:617248 |
