Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Re... |
ORPHA:3033 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem, Stillbirth, Pulmona... |
OMIM:236500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Polyhydramnios, Pulmonary hypoplasia, Renal dysplasia, Oligohydramnios |
ORPHA:3032 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Gray matter heterotopia, Vesicoureteral reflux, Pachygyria, Agenesis o... |
ORPHA:2512 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Nonimmune hydrops fetalis,... |
OMIM:619003 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Respiratory insufficiency, Respiratory fail... |
OMIM:276950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilatera... |
OMIM:618845 |
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 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubula... |
OMIM:614922 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Rena... |
OMIM:616733 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Joubert Syndrome 7 |
|
Encephalocele, Central apnea, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Stage 5 chronic... |
OMIM:611560 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Unilateral renal agenesis |
OMIM:601355 |
Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis, Unilateral re... |
ORPHA:52047 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur... |
ORPHA:1046 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Unilateral renal agenesis, Patent ductus arteriosus, Lissencephaly, ... |
OMIM:618142 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia |
OMIM:615996 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Patent ductus arteriosus, Renal hypoplasia, Umbilical... |
ORPHA:171839 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Hydrocephalus, Pulmonary hypoplasia, Micropenis, Renal... |
OMIM:241800 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Hydrocephalus, Renal hypoplasia, Neonatal death, Vesicoureteral reflux... |
ORPHA:85284 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Dysplastic corpus callosum, Renal hypoplasia, Vesicoureteral ... |
OMIM:616854 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Abnormal cortical gyration, Unilateral renal agenesis, Hydrocephalus, Patent du... |
OMIM:614576 |
Cach Syndrome |
|
Renal hypoplasia, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration af... |
ORPHA:135 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Lissencephaly, Unilateral renal agenesis |
ORPHA:281090 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... |
OMIM:615993 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Renal hypoplasia |
OMIM:615665 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Renal cyst, Nephronophthisis |
OMIM:614465 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Pachygyria, Pulmonary hypoplasia, Hydrocephalus |
OMIM:618174 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Unilateral renal agenesis |
OMIM:616362 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Hydrocephalus, Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephr... |
OMIM:314390 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Joubert Syndrome 3 |
|
Central apnea, Frontal polymicrogyria, Episodic tachypnea, Stage 5 chronic kidney disease, Latera... |
OMIM:608629 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... |
OMIM:604273 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... |
OMIM:231680 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Respiratory insufficiency, Renal cyst |
OMIM:614970 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Ascites, Respiratory failure |
ORPHA:890 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Unilateral renal agenesis, ... |
OMIM:609029 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Increased nuchal translucency, Renal hypoplasia, Polymicrogyria, Hydro... |
OMIM:618494 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Edema, Chronic kidney disease, Oliguria, Renal hypopl... |
ORPHA:97362 |
Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Renal hypoplasia |
OMIM:612946 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Perisylvian polymicrogyria, Pulmonary hypoplasia |
OMIM:616531 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma... |
ORPHA:2257 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia |
ORPHA:1745 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... |
ORPHA:139466 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Abnormal cortical gyration, Polyhydramnios, Patent ductus arterios... |
OMIM:616867 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuc... |
ORPHA:2655 |
Renal Tubular Dysgenesis |
|
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... |
OMIM:267430 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Unilateral renal agenesis, Hydrocephalus, Patent ductus arterio... |
ORPHA:96170 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horse... |
OMIM:608022 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Agenesis of pulmonary vessels, Patent ductus arteriosus, Renal hypoplasia, Hor... |
OMIM:601186 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Oligohydramnios |
OMIM:619053 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... |
ORPHA:90117 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Renal cyst, Horseshoe kidney, Molar tooth sign on MRI, Agenesis of corpu... |
OMIM:614815 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal ... |
OMIM:619334 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Renal hypoplasia, Polyhydramnios |
ORPHA:2256 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla... |
OMIM:617595 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Atelectasis, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Renal h... |
OMIM:269860 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios |
OMIM:613124 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Polyhydramnios, Hypoplasia of the pons, Hypoplasia of the brainstem, Respirator... |
OMIM:225753 |
Joubert Syndrome 9 |
|
Encephalocele, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Molar tooth sign on MRI |
OMIM:612285 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Renal hypoplasia, Microlissencephaly, Ureteral agenesis, Bilateral rena... |
OMIM:617914 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Micropenis, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst... |
ORPHA:2437 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypoplasia of the brainstem, Pulmona... |
OMIM:616546 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic renal dysplasia, Enlarged kidney... |
OMIM:615415 |
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 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Recurrent urinary tract infections, Unilateral renal agenesis, Horsesho... |
OMIM:613680 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Asbestos Intoxication |
|
Reduced vital capacity, Edema, Reduced forced vital capacity, Atelectasis, Pleural thickening, No... |
ORPHA:2302 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Restrictive ve... |
OMIM:614376 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureteral reflux, Age... |
OMIM:619955 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia, Oligoh... |
OMIM:263210 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Neonatal respiratory distress, Hypospadias, Miscarriage, Respiratory infecti... |
ORPHA:96179 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, P... |
OMIM:184260 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypopla... |
ORPHA:171430 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria, Renal cyst |
OMIM:614870 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Respiratory insufficiency,... |
OMIM:616300 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Marden-Walker Syndrome |
|
Hypospadias, Renal hypoplasia, Hypoplasia of the brainstem, Pulmonary hypoplasia, Micropenis, Age... |
OMIM:248700 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia, Oligohydramnios |
OMIM:191830 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Lacticaciduria, Methylmalonic aciduria, Respirat... |
OMIM:245400 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pulmonary hypoplasia, Vesicouretera... |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidn... |
OMIM:614091 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure |
OMIM:619386 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Renal cyst, Horseshoe ki... |
OMIM:612284 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Molar tooth sig... |
OMIM:618161 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Elongated superior cerebellar peduncle, Dyspnea, R... |
OMIM:615636 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Polyhydramnios, Hydrops fetalis, Micropenis, Pulmonary hypoplasia, Pleural effusion,... |
OMIM:616897 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... |
OMIM:120330 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Agenesis of corpus callosum, Oli... |
OMIM:616258 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypoplasia of the brainstem, Renal hypoplasia |
OMIM:616817 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dys... |
ORPHA:99931 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural e... |
OMIM:603278 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia, Polyhydramnios |
OMIM:617194 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu... |
OMIM:617666 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Beta-aminoisobutyric aciduria, Po... |
OMIM:615330 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Congenital Myopathy 17 |
|
Polyhydramnios, Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmona... |
OMIM:618975 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Hydrocephalus, Unilateral renal agenesis |
OMIM:619951 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,... |
OMIM:113650 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Polyhydramnios, Hydronephrosis, Edema |
OMIM:607598 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency |
OMIM:618328 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, 3-Methylglutaconic aciduria, Renal hypoplasia |
ORPHA:254913 |
Jeune Syndrome |
|
Renal insufficiency, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Nephronophthisis... |
ORPHA:474 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, P... |
OMIM:619879 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Apnea, Hydrocephalus, Molar tooth sign on MRI, Nephropathy, P... |
ORPHA:220497 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
ORPHA:464288 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Dilatation of the renal pelvi... |
ORPHA:314588 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... |
OMIM:614131 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Molar tooth sign on MRI, Micropenis |
OMIM:614175 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Polyhydramnios, Unilateral renal agenesis, Pat... |
OMIM:618188 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Agenesis of corpus callosum, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Molar tooth sign on MRI |
OMIM:611134 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Colpocephaly, Vesicoureteral reflu... |
OMIM:609053 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Micropenis, Po... |
OMIM:264480 |
Nager Syndrome |
|
Respiratory insufficiency, Unilateral renal agenesis |
ORPHA:245 |
Tonne-Kalscheuer Syndrome |
|
Micropenis, Hypospadias, Pulmonary hypoplasia |
OMIM:300978 |
Joubert Syndrome 2 |
|
Encephalocele, Central apnea, Renal insufficiency, Neonatal breathing dysregulation, Brainstem dy... |
OMIM:608091 |
Joubert Syndrome 6 |
|
Breathing dysregulation, Stage 5 chronic kidney disease, Hypoplasia of the brainstem, Nephronopht... |
OMIM:610688 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Renal hypoplasia |
ORPHA:75389 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Hypoplasia of the pons... |
OMIM:620305 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, ... |
ORPHA:468631 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pul... |
OMIM:255320 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Gray matter heterotopia, Pulmonary ... |
OMIM:187600 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Polyhydramnios |
OMIM:615348 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Umbilical hernia, Renal hypoplasia, Absence of renal corticomed... |
OMIM:619758 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Renal hypoplasia, Umbilical hernia, Renal dysplasia |
ORPHA:85321 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Coach Syndrome 2 |
|
Hydrocephalus, Apneic episodes in infancy, Molar tooth sign on MRI, Hyperechogenic kidneys, Agene... |
OMIM:619111 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Oligohydramnios |
OMIM:274265 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Patent ductus arterios... |
OMIM:146510 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Lateral ventricle dilatation, Renal hypoplasia |
OMIM:618914 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary artery stenosis, Bilateral lung... |
OMIM:611812 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Apnea, Hydrocephalus, Tachypnea, Abnormality of neuronal migr... |
ORPHA:2318 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... |
OMIM:615573 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Patent ductus arteriosus, Renal hypoplasia, Microphallus, Vesicoureter... |
OMIM:603467 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... |
OMIM:605711 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Apnea, Neonatal res... |
OMIM:608836 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Unilateral renal agenesis, Patent ductus arteriosus, Gray matter heteroto... |
OMIM:620024 |
Pentalogy Of Cantrell |
|
Encephalocele, Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Ren... |
ORPHA:1335 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Ureteral atresia, ... |
OMIM:208540 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Respiratory failure |
ORPHA:79327 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:617190 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... |
OMIM:618414 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Abnormality of the kidney, Respiratory failure, 3-Methylglutaconic... |
ORPHA:1194 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Pulmonary hypo... |
OMIM:313850 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, Renal cyst, Lateral ventricl... |
ORPHA:1692 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis |
ORPHA:352447 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... |
ORPHA:991 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Lymphedema, Dysplastic corpus callosum, Renal hypoplasia, Gray matter heterotopia, T... |
ORPHA:314679 |
Meacham Syndrome |
|
Death in infancy, Congenital alveolar dysplasia, Patent ductus arteriosus, Partial anomalous pulm... |
OMIM:608978 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Patent ductus arteriosus, Megacystis,... |
OMIM:619351 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Atrophy/Degeneration affecting the brainstem |
OMIM:616277 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,... |
ORPHA:2970 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus... |
ORPHA:93274 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Simplified gyral pattern, Renal hypoplasia, Micropenis |
OMIM:616541 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Hypospadias, Patent ductus arteriosus, Pulmonary hypoplasia, Pu... |
OMIM:618316 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia, Edema |
ORPHA:93296 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Holoprosencephaly, Tracheomalacia, Ag... |
OMIM:202650 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Hypospadias |
ORPHA:1548 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... |
OMIM:600995 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism |
OMIM:617660 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Polyhydramnios, Patent ductus arteriosus, Abnormal brains... |
ORPHA:464311 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Lymphedema, Patent ductus arteriosus, Hydronephrosis |
OMIM:616737 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal midbrain morphology, Ethmoidal encep... |
ORPHA:280195 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Snakebite Envenomation |
|
Epistaxis, Edema, Angioedema, Respiratory failure, Respiratory paralysis, Acute kidney injury |
ORPHA:449285 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Polyhydramnios |
OMIM:616794 |
Arima Syndrome |
|
Proteinuria, Polyuria, Brainstem dysplasia, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, H... |
OMIM:243910 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... |
ORPHA:449280 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Recurrent respiratory infections, Hypospadias, Apne... |
ORPHA:397715 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Respiratory failure, 3-Methylglu... |
ORPHA:445038 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Recurrent urinary tract infections, Palpebral edema, Unilateral re... |
ORPHA:221139 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Stillbirth, Pulmonary hypoplasia, Umbilical hernia, Hydronephrosis |
OMIM:308050 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lun... |
ORPHA:2204 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Joubert Syndrome 5 |
|
Central apnea, Occipital encephalocele, Neonatal breathing dysregulation, Episodic tachypnea, Imp... |
OMIM:610188 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... |
ORPHA:98905 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia, Agenesis of corpus callosum, Hydroneph... |
ORPHA:85201 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia, Edema |
OMIM:253310 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Hypoplasia of the brainstem, Molar tooth s... |
OMIM:614424 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Hypospadias, Patent ductus arteriosus, Gray matter heterotopia, Al... |
OMIM:214100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure, Renal cyst |
OMIM:614862 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation... |
OMIM:614080 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Death in infancy, Proteinuria, Chronic kid... |
OMIM:208500 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Abnormal renal morphology, Transient nephrotic syndrome, Lateral ve... |
ORPHA:356961 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Hypospadias, ... |
OMIM:270400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Alg3-Cdg |
|
Hypoplasia of the pons, Neural tube defect, Pulmonary hypoplasia |
ORPHA:79321 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Anencephaly, Pul... |
OMIM:619148 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Facial edema, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
ORPHA:86822 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Subcortical band heterotopia, Simplified gyral pattern, Renal hypoplasia, Gray matte... |
OMIM:601390 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Periorbital edema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Mult... |
OMIM:613177 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia, Spinal dysraphism |
OMIM:612918 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Umbilical hernia, Microphallus, Atrophy/D... |
OMIM:618454 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Gray matter heterotopia, 3-... |
ORPHA:26791 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Nephrob... |
ORPHA:2874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... |
OMIM:220110 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:567548 |
Stromme Syndrome |
|
Hydrocephalus, Bilateral renal hypoplasia, Stillbirth, Agenesis of corpus callosum, Hydronephrosis |
OMIM:243605 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1190 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Hypospadias, Abnormal cortical gyration, Epispadias, Ex... |
ORPHA:2211 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Unilateral renal agenesis, Olivopontocerebellar hypop... |
ORPHA:457284 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Oligohydramnios, Abnormality of the upper urinary tract, Aplasia/Hypo... |
ORPHA:2145 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... |
ORPHA:178320 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Lateral ventricle dilatation, Respiratory failure, Death in childhood, Micropenis |
OMIM:619847 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Micropenis, Hydronephrosis |
OMIM:619185 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Polyhydramnios |
ORPHA:1027 |
Joubert Syndrome 1 |
|
Central apnea, Brainstem dysplasia, Episodic tachypnea, Renal cyst, Occipital myelomeningocele, H... |
OMIM:213300 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... |
OMIM:614196 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:656 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Hypopnea, Polycystic kidney dysplasia |
OMIM:619562 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Pulmonary hypoplasia, Vesicoureteral r... |
ORPHA:2059 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Hypoplasia of the b... |
ORPHA:464306 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Hydrocephalus, Hydrops fetalis, Respiratory insufficiency, Pulmonary ... |
ORPHA:1865 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury |
ORPHA:330021 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Pachygyria, Agenesis of corpus callosum |
ORPHA:168486 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Polyhydramnios, Hydr... |
ORPHA:3412 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependence ... |
OMIM:604320 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Simplified gyral pattern, Pulmonary hypoplasia, Neonatal death, Oligohydramnios |
OMIM:251230 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Perisylvian poly... |
OMIM:618291 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Hydrocephalus, Pulmonary hypoplasia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Unilateral renal agenesis |
OMIM:101800 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Patent ductus arteriosus, Simplified gyral... |
ORPHA:96121 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Pulmonary hypo... |
ORPHA:90652 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... |
ORPHA:209905 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure |
OMIM:618011 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Urinary urgency, Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Respiratory tract infection, Facial ed... |
ORPHA:567546 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... |
OMIM:610725 |
Leigh Syndrome |
|
Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Focal substantia nigra T... |
OMIM:256000 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Respiratory failure, Hydronephrosis, Dysgyria |
OMIM:620327 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Large placenta, Hydrocephalus... |
OMIM:249000 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Periventricular nodular heterotopia, Subcortical band heterotopia, Renal hypoplasia,... |
OMIM:615546 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Polyhydramnios, Hydrocephalus, Upper airway obstruction, ... |
OMIM:100800 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Edema, Pedal edema, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal... |
OMIM:236700 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia, Glandular hypospadias |
OMIM:620306 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Hydrocephalus, Respiratory failure, Ne... |
OMIM:616482 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Lymphedema, Patent ductus arteriosus, Total anomalous pul... |
ORPHA:487796 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent lower respira... |
OMIM:617913 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Edema, Renal cyst, Dehydration, Aplasia/Hypoplasia of t... |
ORPHA:79404 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Rauch-Steindl Syndrome |
|
Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage |
OMIM:619695 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Abnormal cortical gyration, Hydrocephalus, Partial agenesis of the corpus callo... |
OMIM:210710 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormal pleura morphology, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Holoprosen... |
ORPHA:2570 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios |
OMIM:616866 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis, Agenesis of corpus callosum, Ol... |
OMIM:619194 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis, Lateral ventricle dilatation, Pulmonary hypoplasia, Polycystic kidney dysplasia,... |
OMIM:263520 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Hydrocephalus, Abnorma... |
OMIM:617667 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Recurrent sinusitis, Patent ductus arteriosus, Polyhydramnios, Unilateral renal agenesis |
OMIM:213980 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... |
OMIM:615244 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Polyhydramnios, Renal cyst, Stillbirth, Pulmon... |
OMIM:229850 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal pons morphology, Abnormal medulla oblongata morphology, Ur... |
ORPHA:206448 |
Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Polymicr... |
OMIM:154400 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Hypoplasia of penis, Pulmonary hypoplasia, Umbilical hernia, Spina... |
ORPHA:2990 |
Zttk Syndrome |
|
Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Patent... |
OMIM:617140 |
Mosaic Trisomy 16 |
|
Hypospadias, Large placenta, Patent ductus arteriosus, Abnormal lung morphology, Horseshoe kidney... |
ORPHA:1708 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Polyhydramnios |
ORPHA:171433 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Branchial cyst, Abnormality of the kidney, Unilateral renal agenesis, Paten... |
ORPHA:508488 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Agenesis of corpus callosum, Apneic episodes precipitated by illness, fatigu... |
OMIM:312170 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis... |
OMIM:181270 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Gray matter heterotopia, Tachypnea, Apnea |
OMIM:617622 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1486 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Polyhydramnios, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypo... |
ORPHA:3301 |
Boutonneuse Fever |
|
Renal insufficiency, Respiratory failure |
ORPHA:83313 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr... |
ORPHA:340 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Palpebral edema, Unilateral renal agenesis, Patent ductus arteriosus, Hydrocep... |
ORPHA:261337 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Neo... |
OMIM:608013 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Dilatation of the renal pelvis, Abnormalit... |
ORPHA:95699 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca, Olig... |
ORPHA:1112 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Spina bifida, Polyhydramnios, Atelectasis, Hydrocephalus, Meningocele, Abnormal lung... |
ORPHA:567 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Pericardial effusion, Asthma, Abnormal lung lobat... |
ORPHA:79328 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency, Polyhydramnios |
OMIM:618186 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:994 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Wheezing, Patent ductus arteriosus, Renal hypoplasia, Respir... |
OMIM:620005 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Dilatation of the renal pelvis |
OMIM:617120 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Polyhydramnios, Atelectasis, Glandular hypos... |
OMIM:300219 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Oligohydramnios |
OMIM:271520 |
Pontocerebellar Hypoplasia Type 1 |
|
Hypoplasia of the pons, Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo... |
OMIM:256300 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morphology, Gray matter he... |
ORPHA:300573 |
Leigh Syndrome |
|
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Lacticaciduria, ... |
ORPHA:506 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Respiratory failure, Hydrops fetalis, Respiratory insufficiency |
OMIM:609015 |
Kinsship Syndrome |
|
Death in infancy, Respiratory arrest, Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst... |
OMIM:200980 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Patent ductus arteriosus, Hypoxemia, Pulmonary hypoplasia, Pulmona... |
ORPHA:2847 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:312150 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Hypoplasia of the pons, Interstitial emphysema, Dilatation of the renal pelvis, Bronchiectasis, P... |
OMIM:619708 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:1532 |
Acro-Renal-Mandibular Syndrome |
|
Oligohydramnios, Abnormal lung lobation, Pulmonary hypoplasia, Renal hypoplasia/aplasia |
ORPHA:958 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Abnormal cortical gyration, Renal hypoplasia/aplasia, Myelomeningocel... |
OMIM:219000 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum, Unilateral renal agenesis |
OMIM:618419 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia, Pulm... |
ORPHA:3309 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:250999 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Hydrocephalus, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary h... |
OMIM:273395 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonary hypoplasia, Polyhydramnios |
OMIM:608149 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the lungs, Distal urethral duplication, Renal hypopl... |
ORPHA:2549 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Age... |
ORPHA:508498 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ... |
ORPHA:2052 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age... |
OMIM:308205 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:98755 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Lissencephaly... |
OMIM:256520 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Renal agenesis, Bronchitis, Polyhydramnio... |
ORPHA:1199 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Bronchiolitis, E... |
ORPHA:90348 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... |
ORPHA:805 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Large placenta, Respiratory failure, Umbilical hernia, Hydronephrosis |
ORPHA:254528 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Bilateral renal dysplasia, Unilateral renal agenesis, Dysplastic corpus... |
ORPHA:500150 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Polyhydramnios, Abnormality of neuronal migration, Macr... |
ORPHA:2671 |
Leopard Syndrome 1 |
|
Micropenis, Spina bifida occulta, Hypospadias, Unilateral renal agenesis |
OMIM:151100 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia/... |
ORPHA:818 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Periventricular heterotopia, Epispadias, Patent ductus arteriosus, Parti... |
OMIM:615948 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:253290 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:85166 |
Tarp Syndrome |
|
Apnea, Pulmonary hypoplasia, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Pachygyria |
OMIM:606612 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Polyhydram... |
OMIM:619488 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormal brainstem MRI signal intensity, Atelectasis, Respiratory insufficiency,... |
ORPHA:258 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia |
ORPHA:3035 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Lymphedema |
OMIM:607131 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Increased nuc... |
ORPHA:1860 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Apnea, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyria, Agenesis of corpus ... |
ORPHA:220493 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Pol... |
ORPHA:496641 |
Renal Agenesis, Bilateral |
|
Sirenomelia, Renal agenesis, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1848 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respir... |
ORPHA:536467 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail... |
ORPHA:3404 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Bradypnea, Cervical myelopathy, Respiratory failure, Death in childhood, Cerebral edema |
OMIM:617186 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydrops fetalis, Respi... |
ORPHA:93271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea, Atrophy/Degeneration affecting the brainstem |
OMIM:615838 |
Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus arteriosus, Abnormal lung l... |
ORPHA:672 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Ureteropelvic ... |
ORPHA:444072 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Sinusitis, Abnormal midbrain morpholo... |
ORPHA:68 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
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 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Polyhydramnios |
ORPHA:3346 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Periventricular heterotopia, Hydrocephalus, Pneumothorax, Patent ductus arterio... |
OMIM:612289 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Pate... |
OMIM:300868 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Polyhydramnios, Patent ductus arteriosus, Hydropic placenta, S... |
OMIM:275210 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Apnea |
OMIM:617767 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Renal hypoplasia |
ORPHA:3138 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, 3-Methylglutaric aciduria, 3-Methylg... |
OMIM:617248 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Patent ductus arteriosus, Parti... |
OMIM:270100 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Hypospadias, Hydrops fetalis, Pulmonary hypoplasia, Umbilical hernia |
OMIM:265000 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Respiratory insuf... |
OMIM:607625 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
OMIM:612530 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis, Duplication of renal pelv... |
ORPHA:141099 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmo... |
ORPHA:1120 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Lymphedema |
ORPHA:3226 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Atelectasis, Patent ductus arteriosus, Recurrent ... |
OMIM:188400 |
Poland Syndrome |
|
Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Renal hypopla... |
ORPHA:2911 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Renal hypoplasia, Polycystic kidn... |
ORPHA:84064 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Abnormal substantia nigra morphology, Abnormal midbr... |
ORPHA:79139 |
Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Apnea, Lymphedema, Pulmonary art... |
OMIM:300855 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Simplified gyral pattern |
ORPHA:411493 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter... |
ORPHA:798 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Pedal edema, Respiratory failure, Paroxysmal dyspnea, Perip... |
ORPHA:563 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hydrocephalus, Polymicrogyria, Horseshoe kid... |
ORPHA:3310 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Apnea, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Tracheomalacia, Pericardial effusion, Patent ductus arteriosus, Partial ... |
OMIM:618280 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Polymicrogyria |
OMIM:617757 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Edema, Nephrolithiasis, Hypercalciuria, Face of the giant panda s... |
OMIM:277900 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Pulmonary hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:617063 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Renal agenesis, Hydrocephalus, Patent ductus arteriosus, Abnormal lung lobation... |
OMIM:300514 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Hydrocephalus, ... |
ORPHA:370959 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Renal hypoplasia |
ORPHA:264200 |
|