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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
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
Simplified gyral pattern, Oligohydramnios, Pulmonary hypoplasia OMIM:251230
Japanese Encephalitis
Respiratory distress, Abnormal pons morphology, Pulmonary edema, Irregular respiration, Respirato... ORPHA:79139
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Abnormal brainstem m... ORPHA:300573
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Hydrocephalus, Renal neoplasm, Tracheomalacia, Repeated pneumothoraces, Res... ORPHA:536467
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Micropenis, Hydrops fetalis, Bilateral fetal pyelectasis, Polyhydramnio... OMIM:300868
Digeorge Syndrome
Asthma, Chronic pulmonary obstruction, Unilateral renal agenesis, Renal dysplasia, Recurrent sinu... OMIM:188400
Schinzel-Giedion Syndrome
Nephrolithiasis, Respiratory distress, Micropenis, Hypospadias, Abnormality of the ureter, Nephro... ORPHA:798
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Face of the giant panda sign, Glycosur... OMIM:277900
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Agenesis of corpus callosum ORPHA:264200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Renal agenesis, Abnormal lung lobation, Patent ductus arteriosus, Deat... OMIM:300514
Achondrogenesis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Umbilical hernia ORPHA:932
Tetrasomy 9P
Hydrocephalus, Micropenis, Recurrent urinary tract infections, Multiple renal cysts, Polymicrogyr... ORPHA:3310
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:617022
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Orthopnea, Pedal edema, Pulmonary hypoplasia, Recurrent pne... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Hypoplasia of the pons, Abnormal brainstem morphology, Po... ORPHA:370959
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Neonatal death, Micropenis OMIM:617925
Cardiac-Urogenital Syndrome
Micropenis, Scimitar anomaly, Tracheomalacia, Enlarged kidney, Partial anomalous pulmonary venous... OMIM:618280
Stuve-Wiedemann Syndrome 1
Apnea, Oligohydramnios, Respiratory insufficiency, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:601559
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Renal hypoplasia, Micropenis OMIM:619321
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Abnormal brainstem MRI signal intensity ORPHA:444013
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Achondrogenesis Type 1B
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Umbilical hernia ORPHA:93298
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure