| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 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 |
|
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis |
OMIM:618142 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney |
OMIM:613680 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
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 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
| Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis |
OMIM:614576 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Organic aciduria |
OMIM:617184 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria |
OMIM:615228 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:609029 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Ectopic kidney |
OMIM:181510 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis |
OMIM:619951 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis |
OMIM:617190 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Renal dysplasia, Ectopic kidney |
ORPHA:2578 |
| Emanuel Syndrome |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis |
ORPHA:96170 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
| Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Death in infancy |
OMIM:616287 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney |
OMIM:616541 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Unilateral renal agenesis |
OMIM:620024 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Hypospadias, Death in childhood |
OMIM:619334 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:620265 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Death in adolescence |
OMIM:619751 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:614096 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Renal hypoplasia, Neonatal death, Vesicoureteral reflux, Renal dysplasia |
ORPHA:85284 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
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 |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis |
OMIM:101800 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... |
OMIM:620305 |
| Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Microphallus, Abnormal renal collecting system morphology... |
ORPHA:468631 |
| Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
| 7Q11.23 Microduplication Syndrome |
|
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:96121 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis |
OMIM:619194 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar... |
ORPHA:95699 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Hypospadias, ... |
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, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis |
OMIM:213980 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Hypospadias, Glandular hypospadias, Neonatal death, Micropenis, Penile hypospadias |
OMIM:300219 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis |
ORPHA:457284 |
| Leopard Syndrome 1 |
|
Micropenis, Hypospadias, Unilateral renal agenesis |
OMIM:151100 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias |
ORPHA:139466 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Lacticaciduria, Methylmalonic aciduria, Death in childhood, Neonatal death |
OMIM:245400 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Dilatation of the ren... |
ORPHA:268261 |
| Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age... |
OMIM:308205 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis |
OMIM:154400 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis |
ORPHA:261337 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral ... |
ORPHA:508488 |
| Proboscis Lateralis |
|
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... |
OMIM:605711 |
| Afibrinogenemia, Congenital |
|
Neonatal death, Death in infancy, Death in adolescence, Death in childhood |
OMIM:202400 |
| Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
| Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth |
ORPHA:85212 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Lymphatic Malformation 12 |
|
Neonatal death, Death in adolescence |
OMIM:620014 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney |
ORPHA:500150 |
| Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Micropenis, Ren... |
ORPHA:672 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Micropenis |
OMIM:618810 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Hydronephrosis, Unilateral renal agenesis |
OMIM:188400 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis |
OMIM:619503 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death |
OMIM:253310 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
| Abcd Syndrome |
|
Neonatal death |
OMIM:600501 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Coronal hypospadias |
OMIM:619859 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Ketonuria, Lacticaciduria |
OMIM:619167 |
| Meacham Syndrome |
|
Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal death, Enlarged kidney |
OMIM:608978 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Increased urinary taurine |
OMIM:615501 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
| Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication |
ORPHA:83628 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy |
OMIM:618839 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Death in adolescence, Aminoaciduria, Death in childhood, Neonatal death |
OMIM:619055 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis |
ORPHA:99646 |
| Mednik Syndrome |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:609313 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy |
OMIM:265120 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Death in infancy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria |
OMIM:617248 |
