Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Hydranencephaly, Renal dysplasia, Renal cyst, Renal hypoplasia... |
OMIM:236500 |
Renal Tubular Dysgenesis |
|
Nephropathy, Multiple renal cysts, Renotubular dysgenesis, Polyhydramnios, Pulmonary hypoplasia, ... |
ORPHA:3033 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Stillbirth, Pulmonary hypoplasia, Ureteral agenesis |
OMIM:274210 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Unilateral renal agenesis, Pachygyria, Vesicoureteral reflux, Agenesis o... |
ORPHA:2512 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypo... |
OMIM:619003 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3032 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure |
OMIM:228940 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Renal hypoplasia, Resp... |
OMIM:276950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Patent ductus arteriosus, Death in infancy, ... |
OMIM:618845 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Pulmonary venous occlusion, Unilater... |
ORPHA:2260 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus |
OMIM:617661 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Renal dysplasia, Abnormal renal corticomedullary differentiation, Pulmonary... |
OMIM:616733 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly |
OMIM:601355 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Nephronophthisis, Tachypnea, Central apnea, Renal cyst, Neonatal breathing dy... |
OMIM:611560 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Micropenis, Renal dysplasia, Pulmonary hypoplasia, Death in infancy, Occipital enc... |
OMIM:241800 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Braddock Syndrome |
|
Unilateral renal agenesis, Pulmonary arterial hypertension, Pulmonary fibrosis, Neonatal respirat... |
ORPHA:52047 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, ... |
OMIM:615993 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Abnormal renal medulla morphology, Nephronophthisis, Rena... |
OMIM:609583 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Respirator... |
ORPHA:1046 |
Bresek Syndrome |
|
Hydrocephalus, Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Renal hypoplasia, Vesi... |
ORPHA:85284 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Lissencephaly, Patent ductus ... |
OMIM:618142 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Patent ductus arteriosu... |
ORPHA:171839 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Renal hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Unilateral renal agenesis, Hyperechogenic kidneys, Abnormal cortical gyration, Pat... |
OMIM:614576 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Dehydration, Neonatal death, Tubulointerstitia... |
OMIM:263200 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Lissencephaly, Renal insufficiency |
ORPHA:281090 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Recurrent urinary tract infections, Renal hypoplasia, Oligohydramnios... |
OMIM:616854 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Polymicrogyria, Renal hypoplasia, Hydronephrosis, Obstructive sleep apnea |
OMIM:618494 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Molar tooth sign on MRI |
OMIM:615665 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, En... |
OMIM:216360 |
Joubert Syndrome 16 |
|
Renal cyst, Molar tooth sign on MRI, Nephronophthisis, Encephalocele |
OMIM:614465 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Aminoaciduria, Death in childhood, Renal hypoplasia, 3-Methylglutacon... |
OMIM:604273 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:616362 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria... |
OMIM:231680 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Respiratory failure, Death in infancy, Hydronephrosis |
OMIM:618240 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
Hadziselimovic Syndrome |
|
Renal hypoplasia, Pulmonary artery atresia |
OMIM:612946 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Enlarged kidney, Pulmonary hypoplasia, Oligohydramnios, Stillbirth |
OMIM:615415 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Perisylvian polymicrogyria, Pulmonary hypoplasia |
OMIM:616531 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Respiratory failure, Renal insufficiency |
ORPHA:890 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:253300 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Pulmonary arterial hypertension, Patent ductus arteriosus |
OMIM:608406 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia, Abnormality of the kidney, Respiratory insufficiency, Pol... |
ORPHA:2655 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis, Abnormal lung lobation |
ORPHA:1745 |
Emanuel Syndrome |
|
Hydrocephalus, Micropenis, Unilateral renal agenesis, Cough, Renal hypoplasia, Patent ductus arte... |
ORPHA:96170 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Hypoxemia, Ureteral stenosis, Tachypnea, Pulmonary hypoplasia, Abnormal breath sou... |
ORPHA:2257 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Respiratory insufficiency, Renotubular dysgenesis, Pulmonary h... |
OMIM:267430 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Renal agenesis, Hypoplasia of the bladder, Pulmonary hypo... |
ORPHA:139466 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass... |
ORPHA:90117 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypopl... |
OMIM:610205 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Joubert Syndrome 20 |
|
Respiratory insufficiency, Renal cyst, Molar tooth sign on MRI |
OMIM:614970 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
OMIM:601076 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Death... |
OMIM:614922 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Tracheomalacia, Respiratory insufficiency, Cystic renal d... |
OMIM:608022 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Nephronophthisis, Central apnea, Fron... |
OMIM:608629 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Pulmonary hypop... |
ORPHA:3027 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Abnormal cortical gyration, Polyhydramnios, Pulmonary hypoplasia, Patent ductus arteriosus, Neona... |
OMIM:616867 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Respiratory fa... |
OMIM:619334 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
Cach Syndrome |
|
Abnormal pons morphology, Dysgyria, Atrophy/Degeneration affecting the brainstem, Lateral ventric... |
ORPHA:135 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Polyhydramnios, Death in infancy, Respiratory failure, Hypoplasia of the ... |
OMIM:225753 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Oligohydramnios, Ketonuria, Renal hypoplasia, Neonatal respiratory distress |
OMIM:619053 |
Verheij Syndrome |
|
Renal agenesis, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Respiratory insufficiency, Respiratory failure, Micropenis |
ORPHA:370968 |
Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus, Recurrent urinary tract infections, Horsesho... |
OMIM:613680 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disease |
OMIM:612285 |
Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Apnea, Hyperechogenic kidneys, Renal cyst, Pulmonary hypo... |
OMIM:615636 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:244200 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Cystic renal dysplasia, Arrhinencephaly, Polymicrogyria, Abnormal lung... |
OMIM:156810 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Sleep apnea, Multicystic kidney dysplasia, Recurrent urin... |
OMIM:618161 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Restrictive ventilatory defe... |
OMIM:614376 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia |
OMIM:613124 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal agenesis, Renal hypoplasia, Oligohydramnios, Agenesis of corpus callosum |
OMIM:616258 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Miscarriage, Hypospadias, Renal dysplasia, Pulmonary hypoplasia, Renal insufficiency, Re... |
ORPHA:96179 |
Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Pulmonary hypoplasia |
OMIM:617194 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... |
OMIM:617595 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, Cystic renal dysplasia, Anencephaly,... |
OMIM:269860 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, 3-Methylglutaconic aciduria, Respiratory failure, Death in infancy |
OMIM:617248 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Vesicoureteral reflux, Unilateral renal hypoplasia, Colpocephaly, Age... |
OMIM:619955 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia, Patent ductus arte... |
OMIM:616300 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias, Edema of the dorsum of hands, Polyhydramnios, Pulmonary hypoplasia, Resp... |
ORPHA:171430 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Nephronophthisis, Polycystic kidney dysplasia, Pulmonary hypoplasia, Death ... |
OMIM:184260 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Ureter... |
ORPHA:2437 |
Joubert Syndrome 18 |
|
Horseshoe kidney, Molar tooth sign on MRI |
OMIM:614815 |
Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia, Agenesis of corpus callosum, Hyp... |
OMIM:248700 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Polyhydramnios, Polycystic kidney dysplasia, Pulmonary hypoplasia, Oligoh... |
OMIM:263210 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Nephronophthisis, Micropenis |
OMIM:614464 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... |
ORPHA:2302 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Hydrops fetalis, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Pulmonar... |
OMIM:614091 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Pulmonary hypoplasia, Horseshoe kidney, Abnormal lung morphology, Vesicouretera... |
ORPHA:2470 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of th... |
ORPHA:363444 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Methylmalonic aciduria, Death in childhood, Neonatal death, Death in i... |
OMIM:245400 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Death in infancy, Renal insufficiency, Lacticaciduria, Respiratory failure |
OMIM:619386 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sleep apnea, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:464288 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Neonatal death, Renal dysplasia, Renal hypoplasia, Pulmonary hypoplasia, Pn... |
OMIM:266910 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic kidney dysplasia, Nephro... |
ORPHA:1909 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Respiratory insufficiency, Bilateral lung agenesis, Pulmonary arte... |
OMIM:601186 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Pulmonary hypop... |
OMIM:612284 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Communicating hydrocephalus |
ORPHA:1064 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Micropenis |
OMIM:617926 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Anencephaly, Renal cyst, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:614175 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Renal dysplasia, Pulmonary hypoplasia, Proteinuria, Oligohydramnios |
OMIM:191830 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Hypoplasia of the brainstem |
OMIM:616817 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Polyhydramnios, Pulmonary hypoplasia, Microlissencephaly, Agenesis of corpus callosum, Hypoplasia... |
OMIM:601160 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonary HRCT, Cough, Respirat... |
ORPHA:99931 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Micropenis, Hydrops fetalis, Anencephaly, Polymicrogyria, Polyhydramnios, Pulmonar... |
OMIM:616546 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Joubert Syndrome 13 |
|
Pachygyria, Molar tooth sign on MRI |
OMIM:614173 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Hydronephrosis, P... |
OMIM:616897 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia |
OMIM:601389 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Renal ... |
OMIM:113650 |
Jeune Syndrome |
|
Nephronophthisis, Respiratory insufficiency, Nephropathy, Renal insufficiency, Aplasia/Hypoplasia... |
ORPHA:474 |
Lethal Congenital Contracture Syndrome 2 |
|
Edema, Polyhydramnios, Respiratory failure, Hydronephrosis |
OMIM:607598 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respirator... |
ORPHA:2111 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Emanuel Syndrome |
|
Micropenis, Renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Recurrent respiratory inf... |
OMIM:609029 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Respiratory insufficiency, Polyhydramnios, Ureteropelvic junction obstruction, Renal hypoplasia, ... |
OMIM:618975 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum, Hydronephrosis |
OMIM:613735 |
Joubert Syndrome With Renal Defect |
|
Apnea, Hydrocephalus, Nephropathy, Polymicrogyria, Renal insufficiency, Abnormal pattern of respi... |
ORPHA:220497 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Respiratory failure |
ORPHA:71211 |
Meckel Syndrome 14 |
|
Holoprosencephaly, Polycystic kidney dysplasia, Pulmonary hypoplasia, Cardiorespiratory arrest, P... |
OMIM:619879 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Colpocephal... |
OMIM:609053 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Atrophy/Degeneration affecting the brainstem, Polymicrogyria, Renal cyst, ... |
OMIM:618454 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Hypoxemia, Nonproductive cough, Tachypnea, Cough, Acute kidney... |
ORPHA:454836 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary artery atresia |
OMIM:618316 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Vesicoureteral reflux |
OMIM:606408 |
Distal Tetrasomy 15Q |
|
Hydrocephalus, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pulmonary ... |
ORPHA:314588 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Hydrocephalus, Vesicoureteral reflux, Micropenis |
OMIM:619951 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Micropenis, Renal agenesis, Polymicrogyria, Renal hypoplasia, E... |
OMIM:264480 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting sy... |
ORPHA:468631 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Pulmonary hypoplasia, Micropenis |
OMIM:300978 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Nager Syndrome |
|
Unilateral renal agenesis, Respiratory insufficiency |
ORPHA:245 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney |
OMIM:118100 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Respiratory insufficiency, Pulmonary hypoplasia, Death in infancy |
OMIM:256050 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Renal hypoplasia |
ORPHA:75389 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Renal cyst, Meningocele, Encephalocele, Molar tooth sign on MRI |
OMIM:611134 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Umbilical hernia, Oligo... |
OMIM:308205 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Nephronophthisis, Breathing dysregulation, Thickened supe... |
OMIM:610688 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Umbilical hernia |
ORPHA:85321 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Pneumothorax, Respiratory failure, Interlobular septal thickening, Oxygen desaturation... |
ORPHA:60025 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Episodic tachypnea, Nephronophthisis, Cent... |
OMIM:608091 |
Coach Syndrome 2 |
|
Hydrocephalus, Hyperechogenic kidneys, Apneic episodes in infancy, Molar tooth sign on MRI, Agene... |
OMIM:619111 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:224410 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Neonatal death, Polyhydramnios, Pulmonary hypoplasia, Neo... |
OMIM:187600 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Nemaline Myopathy 8 |
|
Polyhydramnios, Respiratory failure, Death in infancy |
OMIM:615348 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Renal hypoplasia, Patent ductus arteriosus, Pneumonia, Pelvic kidney, Vesicourete... |
OMIM:603467 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Long-chain dicarboxylic aciduria, Respiratory insufficiency, Ureteral duplication, Abnorma... |
OMIM:608836 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Unilateral renal agenesis, Neonatal death, Frontal polymicrogyria, Paten... |
OMIM:620024 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Hydrocephalus, Nephropathy, Tachypnea, Renal insufficiency, Abnormality of neuronal migrat... |
ORPHA:2318 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Spina bifida occulta, Renal agenesis |
OMIM:619227 |
Radio-Renal Syndrome |
|
Respiratory distress, Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Multicystic kidney d... |
ORPHA:3015 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Abnormality of the kidney, 3-Methylglutaconic aciduria, Death in infancy, Oligohydra... |
ORPHA:1194 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Pulmonary hypoplas... |
OMIM:208540 |
Arima Syndrome |
|
Occipital meningocele, Gray matter heterotopia, Renal tubular atrophy, Nephronophthisis, Tubuloin... |
OMIM:243910 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Holoprosencephaly, Hydroureter, Neonatal death, Abnormal... |
OMIM:146510 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Renal dysplasia, Pulmonary hypoplasia, E... |
ORPHA:1335 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Minicore Myopathy With External Ophthalmoplegia |
|
Respiratory insufficiency, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Recurrent respi... |
OMIM:255320 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Agenesis of corpus callosum, Polymicrogyria, Pulmonary artery a... |
ORPHA:1692 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Oligohydramnios, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Polymicrogyria, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Micropenis |
OMIM:308750 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... |
OMIM:615573 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Recurrent respiratory infections, Absence of renal corticomedullary differentia... |
OMIM:619758 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom... |
OMIM:608978 |
Alg1-Cdg |
|
Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Renal insufficiency |
ORPHA:79327 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Simplified gyral pattern |
OMIM:616541 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Pulmonary hypoplasia, Patent ductus arte... |
OMIM:313850 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Respiratory failure requiri... |
OMIM:619351 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia, Edema |
ORPHA:93296 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Tracheomalacia, Hypospadias, Renal hypoplasi... |
ORPHA:314679 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Renal hypoplasia, Proteinuria |
ORPHA:1307 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Renal hypoplasia, Vesicoureteral reflux |
OMIM:617660 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy, Atrophy/Degeneration affecting the brainstem |
OMIM:616277 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Pulmonary hy... |
ORPHA:991 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Abnormality of the ureter, Hydroureter, Multicystic kidney dysplasia, R... |
ORPHA:2970 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Abnormality of the kidney, Respiratory insufficiency, Polyhydra... |
ORPHA:93274 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of neuronal migration, Abnormal b... |
ORPHA:464311 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hypospadias, Lymphedema, Patent ductus arteriosus, Hydronephrosis |
OMIM:616737 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Abnormal renal morphology, Cough, Pleuritis, Bronchitis, Respiratory ... |
ORPHA:449280 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Pulmonary hypopl... |
OMIM:611812 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Polymicrogyria, Polyhydramnios, Edema, Respiratory failure |
OMIM:615330 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... |
OMIM:600995 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Unilateral renal agenesis, Palpebral edema, Recurrent urinary tract infections, Recurrent aspirat... |
ORPHA:221139 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... |
OMIM:137920 |
Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encep... |
ORPHA:280195 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Pulmonary hypoplasia, Hydronephrosis, Umbilical hernia, Stillbirth |
OMIM:308050 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Respiratory failure |
OMIM:616794 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Respiratory failure, Pneumothorax, ... |
ORPHA:445038 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hypoxemia, Tachypnea, Acute kidney injury, Pleural effusion, Decreased urine out... |
ORPHA:542323 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Respiratory failure, Death in infancy |
OMIM:614862 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Polyuria, Respiratory insufficiency, Hyperechogenic kidneys, Proteinuria,... |
OMIM:613845 |
Snakebite Envenomation |
|
Respiratory paralysis, Angioedema, Respiratory failure, Acute kidney injury, Edema, Epistaxis |
ORPHA:449285 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Micropenis, Polyhydramnios, Pneumonia, Edema, Abnormal respiratory system physiology, Respiratory... |
ORPHA:98905 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Umbilical hernia |
OMIM:618914 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Holoprosencephaly, Tracheomalacia, Polyhydramnios, Pulmonary hypoplasia, Ag... |
OMIM:202650 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Apnea, Renal cortical cysts, Colpocephaly, Hypospadias, H... |
ORPHA:397715 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... |
OMIM:265120 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Pachygyria, Respiratory failure, Agene... |
ORPHA:168486 |
Genitopatellar Syndrome |
|
Apnea, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis, Agenesis of corpus cal... |
ORPHA:85201 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hydrops fetalis, Polyhydramnios, Abnormality of neuronal migra... |
ORPHA:2204 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Renal hypoplasia, Nephroblastoma |
OMIM:612918 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Tracheomalacia, Hypospadias, Periventricular nodular heterotopia, Renal ... |
OMIM:601390 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Aminoaciduria, Hypospadias, Death in childhood, Polymicrogyria, Pulmonar... |
OMIM:214100 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Respiratory insufficiency, Nephrocalcinosis, Recurrent respiratory infections |
OMIM:615633 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Neonatal death, Edema |
OMIM:253310 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Episodic tachypnea, Reduced renal cor... |
OMIM:610188 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Tracheomalacia, Pulmonary hypoplasia, Periorbital edema, Hydronephrosis, Um... |
OMIM:613177 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Periventricular heterotopia, Micropenis, Unilateral renal agenesis, Hypospadias, H... |
OMIM:270400 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:308700 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Respiratory insufficiency, Renal cyst, Pulmonary hypoplasia, P... |
OMIM:208500 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney |
ORPHA:3109 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Partial agenesis of the corpus callosum, Polyhydramnios, Lissencephaly, Pulmonary h... |
ORPHA:86822 |
Alg3-Cdg |
|
Hypoplasia of the pons, Pulmonary hypoplasia, Neural tube defect |
ORPHA:79321 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Anencephaly, Pulmonary hypoplasia, Penoscrotal transposition, Patent ductus arterios... |
OMIM:619148 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Respiratory distress, Aminoaciduria, Death in childhood, Glycosuria, R... |
OMIM:220110 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:236640 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Aqueductal stenosis, Unilateral renal agenesis, Polymicrogyria, Patent ductus arte... |
OMIM:154400 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Polyhydramnios... |
OMIM:614080 |
Penile Agenesis |
|
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Cystic renal d... |
ORPHA:49 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Olivopontocerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:457284 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Tracheomalacia, Micropenis, Hypospadias, Periventricular nodular heterot... |
OMIM:615546 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Stridor, Urinary urgency, Intercostal muscle weakness, Respiratory failure,... |
OMIM:606071 |
Stromme Syndrome |
|
Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis, Stillbirth, Agenesis of corpus callosum |
OMIM:243605 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Pachygyria, Abnormal penis morphology, Hypospadias, Polymicrogyria, Abnormal cortical gyration, L... |
ORPHA:2211 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Edema, Pneumonia, Hy... |
ORPHA:178320 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney, Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites |
OMIM:200995 |
Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... |
ORPHA:723 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... |
ORPHA:567548 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Pleural empyema, Acute infectious pneumonia... |
ORPHA:36238 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria |
ORPHA:79284 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, 3-Methylglutaric aciduria, Hepatic periportal necrosis, Polycystic kidne... |
ORPHA:26791 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hydrocephalus |
OMIM:101800 |
7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Tracheomalacia, Unilateral renal agenesis, Hypospadias, Patent ductus arteriosus, ... |
ORPHA:96121 |
Slc35A2-Cdg |
|
Transient nephrotic syndrome, Atrophy/Degeneration affecting the brainstem, Abnormal renal morpho... |
ORPHA:356961 |
Autosomal Recessive Amelia |
|
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis |
ORPHA:1027 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Patent ductus arteriosus, Hydrone... |
ORPHA:464306 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Atelosteogenesis Type I |
|
Polyhydramnios, Pulmonary hypoplasia, Multiple renal cysts |
ORPHA:1190 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Hydronephrosis, Micropenis |
OMIM:619185 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Duane-Radial Ray Syndrome |
|
Renal agenesis, Crossed fused renal ectopia, Spina bifida occulta, Renal hypoplasia, Horseshoe ki... |
OMIM:607323 |
Fryns Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Polyhydramnios, Pulmonary hypoplasia, Hydronephrosis, ... |
ORPHA:2059 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Renal agenesis, Arrhinencephaly, Po... |
ORPHA:3412 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent respiratory infections, Hypospadias, Abnormal pulmonary i... |
ORPHA:209905 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean, Respiratory failure... |
OMIM:604320 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Molar tooth sign on MRI |
OMIM:614120 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Renal hypoplasia/aplasia, Holoprosencephaly, Abnormal pleura morphology, Aplasia/Hypoplasia of th... |
ORPHA:2570 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Ur... |
ORPHA:206448 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Acute kidney injury, Dyspnea, Respiratory failure |
ORPHA:330021 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Fraser Syndrome 2 |
|
Aplasia of the bladder, Renal hypoplasia, Renal agenesis |
OMIM:617666 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Patent ductus arteriosus, Hydronephrosis, Colpocephaly |
OMIM:618460 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:608647 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary sy... |
ORPHA:1834 |
Raine Syndrome |
|
Hydrocephalus, Hydroureter, Neonatal death, Pulmonary hypoplasia, Death in infancy, Hydronephrosis |
OMIM:259775 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Anomalous pulmonary venous return, Airway obstruction, Wheezing, Chronic rhinitis,... |
ORPHA:244 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Renal agenesis |
OMIM:608980 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Micropenis |
OMIM:614083 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Nephropathy, Central apnea, Renal cys... |
OMIM:213300 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Miscarriage, Respiratory insufficiency, Hydrops fetalis, Pulmonary hypoplasia, Enc... |
ORPHA:1865 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Oligohydramnios, Abnormality of the urethra, Aplasia/Hypo... |
ORPHA:2145 |
Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia |
OMIM:618011 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent uri... |
OMIM:614527 |
Leigh Syndrome |
|
Hepatocellular necrosis, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abn... |
OMIM:256000 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Hydrocephalus, Cystocele, Abnormality of the kidney, Abnormality of the uret... |
ORPHA:322 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:614196 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hydrocephalus, Hypospadias, Ureteral obstruction, Pulmonary hypoplasia, Hydrone... |
ORPHA:90652 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Hypospadias, Lymphedema, Total anomalous pulmonary venous return, Pate... |
ORPHA:487796 |
Orofaciodigital Syndrome Vi |
|
Renal agenesis, Molar tooth sign on MRI, Renal dysplasia |
OMIM:277170 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Renal tubular acidosis, Abnormal renal tubule morphology, Renal agen... |
ORPHA:70474 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pedal edema, Pulmonary hypoplasi... |
OMIM:236700 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Joubert Syndrome 39 |
|
Hypopnea, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
Fryns Syndrome |
|
Chylothorax, Renal agenesis, Hypospadias, Ureteral duplication, Arrhinencephaly, Polyhydramnios, ... |
OMIM:229850 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Renal agenesis, Abnormality of the ureter, Cystic renal dysplasia, Anencephaly, Hy... |
OMIM:249000 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Edema, Thin... |
OMIM:615244 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Facial edema, Macroscopic hematuria, Palpebral edema, Pulmonary embolism,... |
ORPHA:567546 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Hypoventilation, Recurrent urinary tract infectio... |
ORPHA:731 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Death in childhood, Respiratory failure, Micropenis |
OMIM:619847 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Ureteral obstruction, Urinary retention, Pneumonia, Respiratory failure, De... |
ORPHA:79404 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... |
ORPHA:70587 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Fanconi Anemia, Complementation Group O |
|
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... |
OMIM:613390 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Polyhydramnios, Patent ductus arteriosus, Recurrent sinusitis |
OMIM:213980 |
Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Miscarriage, Hyperechogenic kidneys |
OMIM:619695 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Unilateral renal agenesis, Polyuria, Unilateral lung agenesis, Horses... |
OMIM:617140 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Oligohydramnios, Agenesis of co... |
OMIM:619194 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Unilateral renal agenesis, Branchial fistula, Palpebral edema, Patent ductus arter... |
ORPHA:261337 |
Intermediate Nemaline Myopathy |
|
Polyhydramnios, Respiratory failure |
ORPHA:171433 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Polyhydramnios, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... |
ORPHA:887 |
Ravine Syndrome |
|
Apnea, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Hydrocephalus, Brain stem compression, Aqueductal stenosis, Agenesis of ... |
ORPHA:1136 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Oligosacchariduria, Respiratory insufficiency, Respiratory failure requirin... |
ORPHA:308552 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Chronic kidney disease, Pulmonary edema, Decreased glomerular filtration ra... |
ORPHA:340 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Chronic lung disease, Wheezing, C... |
OMIM:620005 |
Scalp-Ear-Nipple Syndrome |
|
Renal agenesis, Palpebral edema, Renal hypoplasia, Renal insufficiency, Pyelonephritis |
OMIM:181270 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Joubert Syndrome 30 |
|
Apnea, Gray matter heterotopia, Molar tooth sign on MRI, Tachypnea |
OMIM:617622 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Pulmonary hypoplasia |
ORPHA:1486 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Oligohydramnios, Pulmonary hypoplasia |
OMIM:616866 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Spina bifida occulta, Pulmonary hypoplasia, Umbilical hernia, Neonatal respi... |
ORPHA:2990 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Pulmonary... |
OMIM:608013 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Persistent cloaca, Patent ductus arteriosus, Pulmonary hypoplasia, Olig... |
ORPHA:1112 |
Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... |
OMIM:122470 |
Duplication Of Urethra |
|
Dysuria, Chordee, Epispadias, Distal urethral duplication, Bladder duplication, Micropenis, Hypos... |
ORPHA:237 |
22Q11.2 Deletion Syndrome |
|
Asthma, Hydrocephalus, Chronic pulmonary obstruction, Hypospadias, Multiple renal cysts, Arrhinen... |
ORPHA:567 |
Boutonneuse Fever |
|
Respiratory failure, Renal insufficiency |
ORPHA:83313 |
Alg9-Cdg |
|
Asthma, Ureteral hypoplasia, Hydrops fetalis, Hypoplasia of the bladder, Enlarged kidney, Abnorma... |
ORPHA:79328 |
Mosaic Trisomy 16 |
|
Hypospadias, Horseshoe kidney, Pulmonary hypoplasia, Patent ductus arteriosus, Abnormal lung morp... |
ORPHA:1708 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... |
OMIM:256300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Multicystic kidney dysplasia, Abnormal lung lobation, Polyhydramnios, Aplasia/Hypo... |
ORPHA:3301 |
Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia, Renal insufficiency,... |
ORPHA:90324 |
Leigh Syndrome |
|
Renal tubular dysfunction, Nephrotic syndrome, Renal tubular acidosis, Abnormal brainstem MRI sig... |
ORPHA:506 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Meier-Gorlin Syndrome 7 |
|
Micropenis, Hypospadias, Urethral stricture, Pulmonary hypoplasia, Vesicoureteral reflux |
OMIM:617063 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:1532 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Stillbirth, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the... |
ORPHA:95699 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Hypoplasia of the pons, Polymicrogyria, Pulmonary hypoplasia, Dilatation of the renal pelvis, Bro... |
OMIM:619708 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Pulmonary hypoplasia, Patent ductus arteriosus, Neonatal respiratory dis... |
ORPHA:2847 |
Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Respiratory arrest, Death in infancy |
OMIM:619297 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Agenesis of corpus callosum |
OMIM:618419 |
Fetal Akinesia Deformation Sequence |
|
Polyhydramnios, Respiratory insufficiency, Pulmonary hypoplasia |
ORPHA:994 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Micropenis, Renal cyst, Renal hypoplasia, Pachygyria, Oligohydramnios, S... |
OMIM:210710 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Hydrops fetalis, Polycystic kidney dysplasia, Pulmonary hypoplasia, Pachygyria |
OMIM:263520 |
Leopard Syndrome 1 |
|
Unilateral renal agenesis, Hypospadias, Spina bifida occulta, Micropenis |
OMIM:151100 |
Schizophrenia 1 |
|
Renal agenesis, Partially duplicated kidney, Ectopic kidney |
OMIM:181510 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Myoglobinuria, Respiratory failure, Hydrops fetalis |
OMIM:609015 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:250999 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Peripheral pulmonary artery stenosis, Unilateral renal agenesis, Bronchioli... |
ORPHA:90348 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Tetrasomy 5P |
|
Respiratory distress, Hydrocephalus, Pulmonary hypoplasia, Pulmonary arterial hypertension, Recur... |
ORPHA:3309 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Short umbilical cord, Hydranencephaly, Small placenta, Polyhydramnios, Lissenceph... |
OMIM:256520 |
Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia, P... |
OMIM:200980 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:312150 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia, Oligohydramnios, Urethral atresia, Hydronephrosis |
OMIM:271520 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Gray matter heterotopia, Respiratory insufficiency, Polymicr... |
OMIM:617397 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Pulmonary arterial hypertension, Pulmonary hypoplasia |
OMIM:608149 |
Pallister-Hall Syndrome |
|
Recurrent upper and lower respiratory tract infections, Micropenis, Unilateral renal agenesis, Hy... |
ORPHA:672 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Spina bifida, Age... |
ORPHA:508498 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Acro-Renal-Mandibular Syndrome |
|
Renal hypoplasia/aplasia, Oligohydramnios, Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:958 |
Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Respiratory failure, Abnormal brainstem morphology |
ORPHA:98755 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Unilateral renal agenesis, Bilateral renal dysplasia, Unilateral lung... |
ORPHA:500150 |
Degcags Syndrome |
|
Chordee, Chronic kidney disease, Asthma, Rhinitis, Abnormal renal medulla morphology, Tracheomala... |
OMIM:619488 |
Fraser Syndrome 1 |
|
Myelomeningocele, Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Hypospadias, Abnormal cort... |
OMIM:219000 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Stillbirth, Hypospadias, Respiratory insufficiency, Hydronephrosis, Respiratory fa... |
OMIM:304120 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Renal dysplasia, Focal segmental gl... |
OMIM:118450 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia |
ORPHA:85166 |
Fraser Syndrome |
|
Myelomeningocele, Urethral atresia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasi... |
ORPHA:2052 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:253290 |
Neu-Laxova Syndrome |
|
Polymicrogyria, Abnormal cortical gyration, Polyhydramnios, Lissencephaly, Pulmonary hypoplasia, ... |
ORPHA:2671 |
Tarp Syndrome |
|
Pulmonary hypoplasia, Apnea, Horseshoe kidney, Hydronephrosis |
ORPHA:2886 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Ectopic kidney, Renal dysplasia |
ORPHA:2578 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal penis morphology, Polycystic kidney dysplasia, Pulmonary hypoplasi... |
ORPHA:3404 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Hydronephrosis, Umbilical hernia, Respiratory failure, Large placenta |
ORPHA:254528 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Chronic kidney disease, Renal angiomyolipoma, Abnormality of the kidney, No... |
ORPHA:805 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Urethral atresia, Renal agenesis, Pulmonary hypoplasia, Peripheral pulmonary vesse... |
OMIM:273395 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:609981 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Hydrocephalus, Polymicrogyria, Abnormal pattern of respiration, Encephalocele, Molar tooth... |
ORPHA:220493 |
Riddle Syndrome |
|
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Bronchitis, Chronic sinusitis, R... |
ORPHA:420741 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Oligohydramnios, Pulmonary hypoplasia, Sirenomelia |
ORPHA:1848 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Respiratory insufficiency, Hydrops fetalis, Urethrovaginal fistula, Renal cy... |
ORPHA:93271 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Gray matter heterotopia, Abnormality of the kidney, Respiratory insufficiency, Pol... |
ORPHA:1860 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Pleural thickening, Nonimmune hydrops fet... |
OMIM:620014 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Abnormal pons morphology, Intrarenal abscess, Abnormal brainstem MRI signal intensity,... |
ORPHA:68 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Chordee, Micropenis, Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infections, ... |
ORPHA:268261 |
Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Multicystic kidney... |
ORPHA:818 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia, Aqueductal stenosis |
ORPHA:3035 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Atrophy/Degeneration affecting the brainstem, Tachypnea |
OMIM:615838 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Polyhydramnios, Recurrent pneumonia, Respirat... |
ORPHA:496641 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Joubert Syndrome 33 |
|
Apnea, Molar tooth sign on MRI |
OMIM:617767 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cerebral edema, Cervical myelopathy |
OMIM:617186 |
Tracheal Agenesis |
|
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Hypospadias, Abnormality of the kidney, Multiple glom... |
ORPHA:1505 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Ureteropelvic junction obstruction, Abnormal midbrain morphology, Hydrone... |
ORPHA:444072 |
Fontaine Progeroid Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Periventricular heterotopia, Micropenis, Respiratory insu... |
OMIM:612289 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, Distal urethral duplication, Vesicoureteral reflux, Renal hypopl... |
ORPHA:2549 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Proboscis Lateralis |
|
Holoprosencephaly, Unilateral renal agenesis, Ureteral agenesis, Patent ductus arteriosus, Duplic... |
ORPHA:141099 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormal brainstem MRI signal intensity, Pachygyria, Respiratory insufficiency, Pontocerebellar a... |
ORPHA:258 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, Respirator... |
ORPHA:98913 |
Pontocerebellar Hypoplasia Type 10 |
|
Simplified gyral pattern, Abnormal brainstem morphology |
ORPHA:411493 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
OMIM:612530 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Polycystic kidney dysplasia, Patent ductus arteriosus, Rena... |
ORPHA:84064 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Hydrops fetalis, Pulmonary hypoplasia, Umbilical hernia, Neonatal respiratory distress |
OMIM:265000 |
Poland Syndrome |
|
Renal hypoplasia/aplasia, Ureterocele, Hypospadias, Spina bifida occulta, Renal hypoplasia, Dupli... |
ORPHA:2911 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Death in childhood, Polyhydramnios, Respiratory failure, Death in infa... |
OMIM:607625 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:3138 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Respiratory insufficiency, Abnormal lung lobation, Patent duct... |
ORPHA:1120 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Respiratory failure, Recurrent respiratory infections |
ORPHA:3226 |
Restrictive Dermopathy 1 |
|
Hypospadias, Short umbilical cord, Ureteral duplication, Neonatal death, Polyhydramnios, Pulmonar... |
OMIM:275210 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Micropenis, Multicystic kidney dysplasia, Polyhydramnios, Pulmonary ... |
OMIM:606170 |
Achondrogenesis, Type Ia |
|
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Stillbirth, Increased nuchal translucency |
OMIM:200600 |
Peripartum Cardiomyopathy |
|
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Pedal edema, Peripheral edema, Dyspnea, Exertion... |
ORPHA:563 |
Cockayne Syndrome |
|
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... |
ORPHA:191 |
Ogden Syndrome |
|
Apnea, Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Pulmonary edema, Enlarged... |
OMIM:300855 |
Microcephaly-Micromelia Syndrome |
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Simplified gyral pattern, Oligohydramnios, Pulmonary hypoplasia |
OMIM:251230 |
Japanese Encephalitis |
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Respiratory distress, Abnormal pons morphology, Pulmonary edema, Irregular respiration, Respirato... |
ORPHA:79139 |
Polymicrogyria Due To Tubb2B Mutation |
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Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Abnormal brainstem m... |
ORPHA:300573 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory distress, Hydrocephalus, Renal neoplasm, Tracheomalacia, Repeated pneumothoraces, Res... |
ORPHA:536467 |
Congenital Muscular Dystrophy, Ullrich Type |
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Respiratory failure |
ORPHA:75840 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Abnormal pons morphology, Micropenis, Hydrops fetalis, Bilateral fetal pyelectasis, Polyhydramnio... |
OMIM:300868 |
Digeorge Syndrome |
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Asthma, Chronic pulmonary obstruction, Unilateral renal agenesis, Renal dysplasia, Recurrent sinu... |
OMIM:188400 |
Schinzel-Giedion Syndrome |
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Nephrolithiasis, Respiratory distress, Micropenis, Hypospadias, Abnormality of the ureter, Nephro... |
ORPHA:798 |
Joubert Syndrome 32 |
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Molar tooth sign on MRI, Polymicrogyria |
OMIM:617757 |
Wilson Disease |
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Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Face of the giant panda sign, Glycosur... |
OMIM:277900 |
14Q22Q23 Microdeletion Syndrome |
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Renal hypoplasia, Agenesis of corpus callosum |
ORPHA:264200 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Respiratory failure |
OMIM:613435 |
Fanconi Anemia, Complementation Group B |
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Hydrocephalus, Micropenis, Renal agenesis, Abnormal lung lobation, Patent ductus arteriosus, Deat... |
OMIM:300514 |
Achondrogenesis |
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Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Umbilical hernia |
ORPHA:932 |
Tetrasomy 9P |
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Hydrocephalus, Micropenis, Recurrent urinary tract infections, Multiple renal cysts, Polymicrogyr... |
ORPHA:3310 |
Lethal Congenital Contracture Syndrome 10 |
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Oligohydramnios, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:617022 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... |
ORPHA:185 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Respiratory failure |
ORPHA:363400 |
Absence Of The Pulmonary Artery |
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Pulmonary edema, Nonproductive cough, Orthopnea, Pedal edema, Pulmonary hypoplasia, Recurrent pne... |
ORPHA:980 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Respiratory failure, Death in infancy, Polymicrogyria |
OMIM:610678 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Hydrocephalus, Gray matter heterotopia, Hypoplasia of the pons, Abnormal brainstem morphology, Po... |
ORPHA:370959 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Pulmonary hypoplasia, Neonatal death, Micropenis |
OMIM:617925 |
Cardiac-Urogenital Syndrome |
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Micropenis, Scimitar anomaly, Tracheomalacia, Enlarged kidney, Partial anomalous pulmonary venous... |
OMIM:618280 |
Stuve-Wiedemann Syndrome 1 |
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Apnea, Oligohydramnios, Respiratory insufficiency, Pulmonary arterial medial hypertrophy, Pulmona... |
OMIM:601559 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Renal hypoplasia, Micropenis |
OMIM:619321 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Stridor, Paroxysmal dyspnea, Respiratory failure, Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus |
OMIM:273730 |
Achondrogenesis Type 1B |
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Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Umbilical hernia |
ORPHA:93298 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Central hypoventilation, Apnea, Respiratory failure |
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