Gene: Bag6 MGI:1919439

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

BCL2-associated athanogene 6

Synonyms:

G3, Bat3, Scythe, 2410045D21Rik, D17H6S52E

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Bag6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Bag6 (0 diseases)
Human diseases predicted to be associated with Bag6 (677 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bag6 by phenotypic similarity.

Disease	Matching phenotypes	Source
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

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