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:
D17H6S52E,  G3,  2410045D21Rik,  Scythe,  Bat3

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
Hypoplasia of the brainstem, Bulbous nose, Stillbirth, Oligohydramnios, Renal hypoplasia, Renal d... OMIM:236500
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis, Stillbirth OMIM:274210
Neurofaciodigitorenal Syndrome
Bifid nose, Unilateral renal agenesis, Midline defect of the nose OMIM:256690
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Unilateral renal agenesis, Vesicoureteral reflux, Hypoplasia... ORPHA:2512
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Unilateral renal agenesis, Underdeveloped nasal alae OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Respiratory insufficiency, Neonatal death, Respiratory failure, Renal cyst OMIM:228940
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Neonatal d... OMIM:619003
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Patent ductus arteriosus, Chronic kidney disease, Microcephaly, Depressed nasal... OMIM:617661
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure... OMIM:276950
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Narrow nasal bridge OMIM:618681
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Renal agenesis, Short nose, Anteverted nares, Renal hypopla... ORPHA:171839
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Death in infancy, Patent ductus arteriosus, Unilateral renal agenesis, ... OMIM:618845
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Anterior hypopituitarism, Death in infancy, Renal dysplasia, ... OMIM:241800
Nephronophthisis 2
Nephronophthisis, Oligohydramnios, Enlarged kidney, Respiratory insufficiency, Absence of renal c... OMIM:602088
Oligomeganephronia
Decreased numbers of nephrons, Branchial cyst, Unilateral renal agenesis, Abnormality of medullar... ORPHA:2260
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Abnormal renal corticomedullary differentiation, Renal dys... OMIM:616733
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Small cerebral cortex, Simplified gyral pattern, Microc... OMIM:617914
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Bulbous nose, Renal hypoplasia, Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyr... OMIM:618494
Braddock Syndrome
Pulmonary fibrosis, Unilateral renal agenesis, Neonatal respiratory distress, Laryngeal web, Pulm... ORPHA:52047
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Microcephaly, Micropenis, Lissencephaly, Dep... OMIM:618142
Verheij Syndrome
Short nose, Renal hypoplasia, Cerebral atrophy, Wide nasal bridge, Renal cyst, Renal agenesis, Mi... OMIM:615583
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormality of the larynx, Unilateral renal agenesis, Patent ductus arteriosus, Laryngeal web, Pu... OMIM:608406
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Tubulointerstitial fibrosis, Recurrent uppe... OMIM:263000
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Respiratory distress, Bronchiolitis, Renal dysplasia, ... OMIM:615993
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hypoplasia of the corpus callosum, Proximal tubulopathy, Cerebral atrophy, Death i... OMIM:614576
Joubert Syndrome 22
Renal hypoplasia, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical a... OMIM:615665
Meier-Gorlin Syndrome 8
Renal hypoplasia, Microcephaly OMIM:617564
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Vesicoureteral refl... ORPHA:85284
Orofaciodigital Syndrome Xv
Wide nasal bridge, Hydronephrosis, Molar tooth sign on MRI, Anteverted nares, Agenesis of corpus ... OMIM:617127
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Respiratory insufficiency, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central a... OMIM:611560
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Unilateral renal agenesis, Patent ductus arteriosus, Hydroneph... OMIM:609757
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Hadziselimovic Syndrome
Anteverted nares, Renal hypoplasia, Hypoplasia of the corpus callosum, Pulmonary artery atresia, ... OMIM:612946
Meckel Syndrome 12
Oligohydramnios, Renal hypoplasia, Microcephaly, Wide nasal bridge, Ureteral hypoplasia, Renal ag... OMIM:616258
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Lissencephaly ORPHA:281090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Neonatal death, Absence of renal c... OMIM:263200
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Renal cortical cysts, Respiratory distress, Glutaric aciduria, Generalized aminoacidu... OMIM:231680
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Renal hypoplasia, Wide nasal bridge, Hypoplasia of penis, Depressed nasal bridge ORPHA:2256
Even-Plus Syndrome
Short nose, Oligohydramnios, Renal hypoplasia, Recurrent urinary tract infections, Dysplastic cor... OMIM:616854
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Nephronophthisis, Elongated superior cerebellar peduncle,... OMIM:609583
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Oligohydramnios, Bilateral renal agenesis, Uni... ORPHA:411709
Cach Syndrome
T2 hypointense thalamus, Oligohydramnios, Renal hypoplasia, Cerebral atrophy, Dysgyria, Atrophy/D... ORPHA:135
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Renal hypoplasia, Hypoplasia of the corpus callosum, Death in infancy, Renal tubular ... OMIM:614922
Thanatophoric Dysplasia
Polyhydramnios, Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus, Respiratory ins... ORPHA:2655
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Respiratory distress, Cystic renal dysplasia, Enlarged kidney, N... OMIM:608022
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Respiratory ... ORPHA:370968
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Sleep apnea, Renal hypoplasia, Hypoplasia of the corpus callosum, Laryngomalacia, Vesicoureteral ... ORPHA:464288
Joubert Syndrome 35
Sleep apnea, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Hy... OMIM:618161
Emanuel Syndrome
Agenesis of corpus callosum, Oligohydramnios, Renal hypoplasia, Abnormal cerebral white matter mo... ORPHA:96170
Renal Tubular Dysgenesis
Oligohydramnios, Anuria, Renotubular dysgenesis, Abnormality of the urinary system, Respiratory i... OMIM:267430
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Joubert Syndrome 3
Nephronophthisis, Episodic tachypnea, Central apnea, Wide nasal bridge, Elongated superior cerebe... OMIM:608629
Renal-Hepatic-Pancreatic Dysplasia 2
Oligohydramnios, Cystic renal dysplasia, Stillbirth, Enlarged kidney, Pulmonary hypoplasia OMIM:615415
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Respiratory failure, Death in infancy, Hydroureter OMIM:618240
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Hypoplasia of the brainstem, Death in infancy, Respiratory failure, Microcephaly,... OMIM:225753
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respiratory failure... OMIM:617248
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Meckel Syndrome, Type 10
Anencephaly, Renal cyst, Hypospadias, Molar tooth sign on MRI, Micropenis OMIM:614175
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Renal ... OMIM:610205
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Prominent nasal bridge, Abno... ORPHA:1745
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Renal hypoplasia, Short nose... OMIM:618454
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Tachypnea, Abnormal pulmonary arter... ORPHA:2257
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Hypoplasia of the brainstem, Thickened superior cere... OMIM:608091
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge ORPHA:1064
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst, Respiratory insufficiency OMIM:614970
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Unilateral renal agenesis, Broad nasal tip ORPHA:3306
Serkal Syndrome
Hypoplasia of the bladder, Oligohydramnios, Abnormal penis morphology, Pulmonary hypoplasia, Hypo... ORPHA:139466
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Fusion of the left... OMIM:156810
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Abnormal periventricular white matter morphology, Pe... ORPHA:468631
Hepatic Veno-Occlusive Disease
Renal insufficiency, Respiratory failure, Ascites ORPHA:890
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Abnormality of the urinary sy... ORPHA:90117
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Renal hypoplasia, Hypoplasia of the corpus callosum, Vesicoureteral reflux, Hydroneph... OMIM:613735
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, R... OMIM:245400
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Anteverted nares OMIM:613124
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Patent ductus ar... ORPHA:363444
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Underdeveloped nasal alae, Oligohydramnios, Pulmonary hypoplasia, Polycystic kidn... OMIM:263210
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Caudal Regression Sequence
Renal agenesis, Arrhinencephaly, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney... ORPHA:3027
Burn-Mckeown Syndrome
Underdeveloped nasal alae, Renal hypoplasia, Choanal atresia, Bilateral choanal atresia/stenosis,... OMIM:608572
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Laryngotracheomalacia, Renal hypoplasia, Spinal dysraphism, Laryngeal web, Vesicoureteral reflux,... OMIM:617660
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Neonatal death, Respiratory failure, Death in childhood, Hyposp... OMIM:619334
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Neonatal respiratory distress, Ketonuria, Oligohydramnios OMIM:619053
Emanuel Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, C... OMIM:609029
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Unilateral renal agenesis, Spina bifida occulta, Renal agenesis, Microcephaly, T... OMIM:619227
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis, Prominent nose OMIM:617926
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal lung morphology, Stillbirth ORPHA:294975
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Micro... OMIM:610127
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent ductus arteriosus, Neonatal respiratory distress, Abnormal cortical gyrati... OMIM:616867
Cutis Laxa, Autosomal Dominant 3
Microcephaly, Unilateral renal agenesis OMIM:616603
Marden-Walker Syndrome
Hypoplasia of the brainstem, Anteverted nares, Renal hypoplasia, Microcephaly, Pulmonary hypoplas... OMIM:248700
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Wide nasal bridge, Renal dysplasia, Hypoplasia of penis, Rena... ORPHA:85321
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Renal hypoplasia, Pulmonary hypoplasia, Renal cyst, Polycystic kidney dysplasia,... OMIM:614091
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Cystic renal dysplasia, Renal hypoplasia, Holoprosencephaly, Patent ductus arteri... OMIM:269860
Joubert Syndrome 21
Hypoplasia of the brainstem, Apnea, Dyspnea, Hypoplasia of the corpus callosum, Pulmonary hypopla... OMIM:615636
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Short nose, Anteverted nares, Pleural effusion, Microcephaly, Wi... OMIM:616897
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Hypoplasia of the corpus callosum, Microcephaly, Hypoplasia of the brainstem OMIM:616817
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Pulmonary ... ORPHA:2437
Matthew-Wood Syndrome
Abnormal lung morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Pulmonary hy... ORPHA:2470
Odontochondrodysplasia 1
Nephronophthisis, Respiratory distress, Death in infancy, Pulmonary hypoplasia, Polycystic kidney... OMIM:184260
Takenouchi-Kosaki Syndrome
Bulbous nose, Abnormal periventricular white matter morphology, Lymphedema, Hypoplasia of the cor... OMIM:616737
Pallister-Hall Syndrome
Hydroureter, Choanal atresia, Patent ductus arteriosus, Micropenis, Depressed nasal bridge, Renal... OMIM:146510
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Renal hypoplasia, Pulmonary artery stenosis, Anteverted na... ORPHA:75389
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Oligohydramnios, Renal hypoplasia, Renal dysplasia, Neonatal death, Pulmona... OMIM:266910
Joubert Syndrome 16
Nephronophthisis, Molar tooth sign on MRI, Renal cyst OMIM:614465
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia, Respiratory failure, Hypospad... ORPHA:171430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Polymicrogyria, Pulmonary hypoplasia, Molar tooth s... OMIM:616546
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Bulbous nose, Respiratory distress, Enlarged kidney, Oligohydramnios,... OMIM:608836
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Underdeveloped nasal alae, Unilateral renal agene... OMIM:618419
Joubert Syndrome 18
Molar tooth sign on MRI, Horseshoe kidney OMIM:614815
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Renal dysplasia, Pulmonary hypoplasia, Renal agenesis, Proteinuria OMIM:191830
Nager Syndrome
Unilateral renal agenesis, Abnormal nasal morphology, Respiratory insufficiency ORPHA:245
Meckel Syndrome 13
Molar tooth sign on MRI, Polycystic kidney dysplasia OMIM:617562
Joubert Syndrome 15
Nephronophthisis, Molar tooth sign on MRI, Micropenis OMIM:614464
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Tonne-Kalscheuer Syndrome
Micropenis, Microcephaly, Wide nasal bridge, Pulmonary hypoplasia, Hypospadias, Prominent nasal b... OMIM:300978
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Renal hypoplasia, Hypoplasia of the corpus callosum, Lymphedema, Bilater... ORPHA:314679
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Patent ductus arteriosus, Respiratory insu... OMIM:601186
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Death in infancy, Aminoaciduria, Respiratory failure, Renal insufficiency OMIM:619386
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Oligohydramnios, Respiratory insufficiency, Ne... ORPHA:1909
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Nephropathy, Abnor... ORPHA:2318
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Agenesis of corpus callosum, Absent septum pellucidu... OMIM:609053
Joubert Syndrome With Renal Defect
Apnea, Agenesis of corpus callosum, Anteverted nares, Nephropathy, Polymicrogyria, Abnormal patte... ORPHA:220497
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney, Broad nasal tip, Microcephaly, Promi... OMIM:616541
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Wide nasal bridge, ... ORPHA:168486
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Short nose, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Fanconi Anemia, Complementation Group L
Hydrocephalus, Renal hypoplasia, Wide nasal bridge, Micropenis, Tracheoesophageal fistula, Depres... OMIM:614083
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Polyhydramnios, Oligohydramnios, Hypoplasia of the corpus callosum, Unilateral renal agenesis, Mi... ORPHA:464311
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Microcephaly, Anteverted nares ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... OMIM:616081
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Death in infancy, Cerebral cortical a... ORPHA:1194
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency, Multicystic kidn... ORPHA:2111
Lissencephaly Type Iii And Bone Dysplasia
Polyhydramnios, Hypoplasia of the brainstem, Pulmonary hypoplasia, Microlissencephaly, Agenesis o... OMIM:601160
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cer... OMIM:615330
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Respiratory failure, Nephrolithiasis, Respiratory insufficiency OMIM:618329
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Oligohydramnios, Hypoplasia of the corpus callosum, Unilateral renal agenesis, Umbilical hernia, ... OMIM:308205
Jeune Syndrome
Nephronophthisis, Nephropathy, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Renal ... ORPHA:474
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Renal insufficiency, Oligohydramnios, Chordee, Renal dyspla... ORPHA:96179
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Cerebral cor... OMIM:618291
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Rena... OMIM:616300
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Absence of renal corticomedullary differentiation, Respiratory fail... OMIM:259720
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Hypothalamic gonadotropin-releasing hormone deficiency, Unilateral renal agenesis, Ol... OMIM:308750
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Respiratory insufficiency due to muscle weakness, Neonatal death, Respiratory f... OMIM:611890
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Hypoplasia of the brainstem, Pachygyria, Neuronal loss in the cerebral cortex, Fa... ORPHA:86822
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Renal cyst, Depressed nasal bridge OMIM:614862
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Depressed nasal br... OMIM:256050
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Respiratory failure, Hydronephrosis, Edema OMIM:607598
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Aspiratio... OMIM:619057
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Polyhydramnios, Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Uretero... OMIM:618975
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, Microcephaly, Nep... ORPHA:352447
Mosaic Trisomy 1
Polyhydramnios, Penile hypospadias, Renal cortical cysts, Wide nasal bridge, Increased nuchal tra... ORPHA:1692
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Prominent nasal bridge, Proteinuria ORPHA:1307
Fanconi Anemia, Complementation Group F
Polyhydramnios, Microphallus, Renal hypoplasia, Patent ductus arteriosus, Pneumonia, Vesicoureter... OMIM:603467
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary artery atresia, Hypo... OMIM:618316
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Bulbous nose, Microcephaly, Simplified gyral pattern, Renal agenesis... OMIM:617090
Slc35A2-Cdg
Abnormal renal morphology, Cerebral white matter atrophy, Transient nephrotic syndrome, Abnormal ... ORPHA:356961
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Abnormal pleura morphology, Cerebra... ORPHA:2570
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Respiratory failure ORPHA:71211
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Wide nasal bridge OMIM:224410
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Nephropathy,... OMIM:213300
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Renal cyst, Microcephaly, Molar toot... OMIM:611134
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Microcephaly, Abnormal periventricular white matter morphology, Decreased respo... OMIM:617784
Radio-Renal Syndrome
Renal agenesis, Respiratory distress, Dyspnea, Pleural effusion, Multicystic kidney dysplasia, Re... ORPHA:3015
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Joubert Syndrome 9
Apnea, Molar tooth sign on MRI, Stage 5 chronic kidney disease, Episodic tachypnea OMIM:612285
Acrofacial Dysostosis 1, Nager Type
Laryngeal hypoplasia, Unilateral renal agenesis, Patent ductus arteriosus, Aqueductal stenosis, P... OMIM:154400
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Unilateral rena... OMIM:101800
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Renal hypoplasia, Holoprosencephaly, Microcephaly, Polymicrogyria, R... OMIM:264480
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Microcephaly, Prominent nasal bridge, Wide nose ORPHA:94063
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Unil... OMIM:308700
Distal Tetrasomy 15Q
Abnormality of the kidney, Horseshoe kidney, Patent ductus arteriosus, Pulmonary hypoplasia, Hydr... ORPHA:314588
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Genitopatellar Syndrome
Apnea, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis, Microcephaly, Prominen... ORPHA:85201
Smith-Lemli-Opitz Syndrome
Renal agenesis, Anteverted nares, Periventricular heterotopia, Renal hypoplasia, Holoprosencephal... OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the brainstem, Oligohydramnios, Hypoplasia of the corpus callosum, Unilateral renal... ORPHA:464306
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, 3-Methylglutaconic aciduria, Primary microcephaly, Abnormality of the basal gan... ORPHA:445038
Nemaline Myopathy 8
Polyhydramnios, Respiratory failure, Death in infancy OMIM:615348
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Ede... OMIM:614131
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Renal insufficiency, Molar tooth sign on MRI, Depressed nasal bridge, Ch... ORPHA:397715
Avian Influenza
Ground-glass opacification, Dyspnea, Acute kidney injury, Respiratory distress, Pleural effusion,... ORPHA:454836
Joubert Syndrome 36
Molar tooth sign on MRI, Anteverted nares OMIM:618763
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Hyperechogenic kidneys, Molar tooth sign on MRI, Agene... OMIM:619111
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Palpebral edema, Unilateral renal agenesis, Recurrent urinary tract infections, Umbilical hernia,... ORPHA:221139
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Renal hypoplasia, Hypoplasia of the corpus callosum, Tracheo... OMIM:601390
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Ravine Syndrome
Apnea, Abnormality of the larynx, Abnormality of the basal ganglia, Abnormal brainstem morphology... ORPHA:99852
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, ... ORPHA:457284
Arima Syndrome
Nephronophthisis, Hypoplasia of the brainstem, Dyspnea, Tubulointerstitial fibrosis, Gray matter ... OMIM:243910
Pagod Syndrome
Spina bifida, Death in infancy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Mening... ORPHA:991
Thoracoabdominal Syndrome
Renal agenesis, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Hypospadias, Hydroce... OMIM:313850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Umbilical he... OMIM:618914
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respi... OMIM:255320
Scedosporiosis
Abnormal renal morphology, Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Br... ORPHA:449280
Van Maldergem Syndrome 2
Gray matter heterotopia, Renal hypoplasia, Hypoplasia of the corpus callosum, Tracheomalacia, Wid... OMIM:615546
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Nephronophthisis, Elongated superior cerebellar peduncle,... OMIM:610688
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of the urinary system, Abnormality of neuronal migra... ORPHA:2204
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Bladder diverticulum, Wide nasal bridge, Laryngomalacia, Umbilical her... OMIM:613177
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary artery pressure,... OMIM:619351
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Abnormal renal tubule morphology, Basal ganglia gliosis, Diff... ORPHA:70474
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Short nose, Cerebral atrophy, Patent ductus arteriosus, Ureteral hypoplasia, Blad... OMIM:614080
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Hypoplasia of the bladder, Oligohydramnios, Pulmonary hypoplasia, Bilateral lung ... OMIM:611812
Pentalogy Of Cantrell
Renal agenesis, Anencephaly, Renal dysplasia, Pulmonary hypoplasia, Hypospadias, Hydrocephalus ORPHA:1335
Raine Syndrome
Short nose, Hydroureter, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Hydronephrosis, C... OMIM:259775
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Snakebite Envenomation
Acute kidney injury, Epistaxis, Hypopituitarism, Respiratory paralysis, Respiratory failure, Edem... ORPHA:449285
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Oligohydramnios, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Stromme Syndrome
Agenesis of corpus callosum, Stillbirth, Wide nasal bridge, Bilateral renal hypoplasia, Hydroneph... OMIM:243605
Penile Agenesis
Unilateral renal hypoplasia, Short nose, Oligohydramnios, Hydroureter, Cystic renal dysplasia, Bi... ORPHA:49
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 1
Oligohydramnios, Enlarged kidney, Patent ductus arteriosus, Renal dysplasia, Ureteral atresia, Pu... OMIM:208540
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr... OMIM:615573
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Respiratory insufficiency, Cerebral cortical atrophy, Vesicoureteral reflux... ORPHA:1166
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Enuresis, Tracheomalacia, Patent ductus arteriosus, Hydronephrosis, Br... ORPHA:96121
Thanatophoric Dysplasia Type 2
Polyhydramnios, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Respiratory insuffici... ORPHA:93274
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Underdeveloped nasal alae OMIM:617666
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Prune Belly Syndrome
Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Recurrent urinary tract infections, Paten... ORPHA:2970
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Microcephaly, Hydronephrosis, Aminoaciduria OMIM:617913
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Gray matter he... ORPHA:26791
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Abnormal nasopharynx morphology, Renal malrotation... OMIM:607323
Achondrogenesis Type 2
Pulmonary hypoplasia, Edema, Cardiorespiratory arrest ORPHA:93296
Atelosteogenesis Type I
Polyhydramnios, Multiple renal cysts, Laryngotracheal stenosis, Laryngeal stenosis, Pulmonary hyp... ORPHA:1190
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Pachygyria, Abnormal penis morphology, Wide nasal bridge, Abnormality of neuronal mi... ORPHA:2211
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure OMIM:616794
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Patent ductus ar... OMIM:214100
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Ectopic kidney, Unilateral renal agenesis ORPHA:3109
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Unilateral renal agenesis, Recurrent urinary tract i... OMIM:614527
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr... OMIM:600995
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Stillbirth, Umbilical hernia, Pulmonary hypoplasia, Hydronephrosis, Renal hypopla... OMIM:308050
Khan-Khan-Katsanis Syndrome
Short nose, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hydronephrosis, Mi... OMIM:618460
Hemifacial Microsomia
Agenesis of corpus callosum, Branchial anomaly, Patent ductus arteriosus, Multicystic kidney dysp... OMIM:164210
Adult Krabbe Disease
Abnormal midbrain morphology, Urinary incontinence, Abnormal corpus callosum morphology, Abnormal... ORPHA:206448
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia, Edema OMIM:253310
Acrocephalopolydactylous Dysplasia
Short nose, Cystic renal dysplasia, Enlarged kidney, Pulmonary hypoplasia, Ascites, Extrapulmonar... OMIM:200995
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplas... OMIM:208500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Respiratory insufficiency, Chronic kidney disease, Respiratory fail... OMIM:613845
Mercury Poisoning
Dyspnea, Respiratory distress, Acute kidney injury, Interstitial pneumonitis, Abnormal cerebral w... ORPHA:330021
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Oligohydramnios, Abnormality of the urinary system, Abnormality of the ureter, Abn... ORPHA:1834
Galloway-Mowat Syndrome 5
Pachygyria, Glomerular sclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Micr... OMIM:617731
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Abnormal respiratory system physiology, Pneumonia, Respiratory failure, Edema, Mi... ORPHA:98905
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Renal dysplasia, Broad nasal tip, Renal agenesis, Molar tooth sign on MRI OMIM:277170
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Nephrocalcinosis, Recurrent respiratory infections, Respiratory insufficiency OMIM:615633
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Wide nasal bridge, Broad nasal tip OMIM:615524
Chromosome 13Q33-Q34 Deletion Syndrome
Choanal atresia, Penoscrotal transposition, Anencephaly, Wide nasal bridge, Patent ductus arterio... OMIM:619148
Fryns Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Wide nasal bridge, Cerebral cortical atrophy, Vesic... ORPHA:2059
Hyperekplexia 4
Cerebral atrophy, Respiratory failure, Umbilical hernia OMIM:618011
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Megacystis, Agenesis of corpus callosum, Respiratory distress, Pulmonary... ORPHA:209905
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Renal agenesis, Hydrocephalus, Arrhinencephaly, Aqueductal stenosis... ORPHA:3412
Tetraploidy
Renal hypoplasia/aplasia, Microcephaly, Aplasia/Hypoplasia of the lungs, Hydronephrosis ORPHA:3305
Distal 22Q11.2 Microduplication Syndrome
Bulbous nose, Palpebral edema, Branchial fistula, Unilateral renal agenesis, Patent ductus arteri... ORPHA:261337
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Pleural effusion, Hypoxemia, Respiratory failure, Pulmonary edema, Tachypnea... ORPHA:542323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Bulbous nose, Abnormal periventricular white matter morphology, Lymphedema, Hypoplasia of the cor... ORPHA:487796
Zttk Syndrome
Unilateral lung agenesis, Horseshoe kidney, Short nose, Hypoplasia of the corpus callosum, Abnorm... OMIM:617140
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine... ORPHA:567548
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Oligohydramnios, Hydroureter, Bilateral renal agenesis, Hypoplasia of the corpus callosum, Unilat... OMIM:619194
Exstrophy-Epispadias Complex
Spina bifida, Bladder duplication, Horseshoe kidney, Abnormality of the kidney, Renal hypoplasia,... ORPHA:322
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Wide nasal bridge, Abnormal brainstem morphology, Simplified gyral pat... ORPHA:411493
Cockayne Syndrome Type 3
Neurogenic bladder, Cerebral white matter atrophy, Hydroureter, Renal hypoplasia, Unilateral rena... ORPHA:90324
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Wid... ORPHA:444072
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency, Intercostal muscle weakness, Respiratory failure, Stridor,... OMIM:606071
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Leigh Syndrome
Hepatocellular necrosis, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Res... OMIM:256000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Joubert Syndrome 10
Molar tooth sign on MRI, Wide nasal bridge OMIM:300804
Craniosynostosis, Herrmann-Opitz Type
Short nose, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Abnorma... ORPHA:2145
Autosomal Recessive Amelia
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis ORPHA:1027
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Agenesis of corpus callosum, Abnormality of the larynx, Multicystic kidney dyspla... ORPHA:3301
Opitz Gbbb Syndrome, Type Ii
Cavum septum pellucidum, Abnormality of the kidney, Agenesis of corpus callosum, Aspiration, Pate... OMIM:145410
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Short nose, Hypoplastic frontal sinuses, Pulmonary hypoplasia, Hydronephros... ORPHA:90652
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Pallister-Hall Syndrome
Bilateral renal agenesis, Choanal atresia, Pituitary hypothyroidism, Patent ductus arteriosus, Re... ORPHA:672
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Hypoplasia of the bladder, Oligohydramnios, Abnormality of the laryn... OMIM:249000
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory fa... ORPHA:2759
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Bulbous nose, Stillbirth, Short nose, Abnormality... ORPHA:95699
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus, Abnormal brainstem morphology ORPHA:1532
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Pachygyria, Abnormality of the larynx, Hypoplasia of the epiglottis, Pulmonary h... OMIM:263520
Scalp-Ear-Nipple Syndrome
Renal agenesis, Pyelonephritis, Palpebral edema, Renal hypoplasia, Renal insufficiency, Anteverte... OMIM:181270
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Acute kidney injury, Oligohydramnios, Enlarged kidney,... ORPHA:731
Fryns Syndrome
Polyhydramnios, Renal agenesis, Stillbirth, Arrhinencephaly, Wide nasal bridge, Pulmonary hypopla... OMIM:229850
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Urinary incontinence, Respirat... OMIM:604320
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Renal hypoplasia, Subglottic ... OMIM:219000
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Nephronophthisis, Impaired renal concentrating ability, R... OMIM:610188
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Abnormal basal ganglia MR... ORPHA:506
Focal Segmental Glomerulosclerosis 1
Edema, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the brainstem, Short nose, Underdeveloped nasal alae, Chordee, Oligohydramnios, Hyp... ORPHA:268261
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Respiratory tract infection, Myocardial necrosis, Intrar... ORPHA:68
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Edema, Nephrotic syndrome, Prote... OMIM:614196
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
22Q11.2 Deletion Syndrome
Polyhydramnios, Bulbous nose, Choanal atresia, Patent ductus arteriosus, Vesicoureteral reflux, H... ORPHA:567
Mckusick-Kaufman Syndrome
Hydroureter, Pedal edema, Pulmonary hypoplasia, Vesicovaginal fistula, Hydronephrosis, Polycystic... OMIM:236700
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia, Laryngomalacia, Hydronephrosis, Respiratory fai... ORPHA:254528
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Di... OMIM:610725
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Fraser Syndrome
Urethral atresia, Abnormal lung lobation, Midline nasal groove, Underdeveloped nasal alae, Renal ... ORPHA:2052
Short Rib-Polydactyly Syndrome
Polyhydramnios, Nephronophthisis, Multiple glomerular cysts, Urogenital sinus anomaly, Abnormal l... ORPHA:1505
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Edema, Nephrotic syndrome, Diffuse mes... OMIM:615244
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Neurofaciodigitorenal Syndrome
Prominent nasal bridge, Unilateral renal agenesis ORPHA:2673
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory failure, Respiratory distress, Renal angiomyolipoma, Ren... ORPHA:805
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Choanal atresia, Pneumonia, Microcephaly, Vesicouret... OMIM:122470
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia, Renal hypoplasia, Oligohydramnios, Renal cyst, H... OMIM:210710
Vacterl/Vater Association
Polyhydramnios, Renal agenesis, Anencephaly, Multicystic kidney dysplasia, Laryngomalacia, Aplasi... ORPHA:887
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Meier-Gorlin Syndrome 7
Choanal atresia, Vesicoureteral reflux, Pulmonary hypoplasia, Urethral stricture, Hypospadias, Pr... OMIM:617063
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Apnea, Agenesis of corpus callosum, Brain stem compression, Inspiratory strid... ORPHA:1136
Autosomal Recessive Multiple Pterygium Syndrome
Umbilical hernia, Neonatal respiratory distress, Pulmonary hypoplasia, Spina bifida occulta, Hypo... ORPHA:2990
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Oligohydramnios, Patent ductus arteriosus, Persistent cloaca, Pulmonary hypoplasia, Renal hypopla... ORPHA:1112
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress... OMIM:310400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Horseshoe kidney, Renal agenesis, Renal hypoplasia, Hypoplasia of the corpus callos... ORPHA:508498
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Horseshoe kidney, Short nose, Patent ductus arteriosus after birth at t... ORPHA:500150
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Respiratory insufficiency, Wide nasal bridge, Pulmonary hypoplasia, Microcephaly... ORPHA:1865
Al-Gazali-Bakalinova Syndrome
Lymphedema, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Dyspnea, Albuminuria, Anasarca, Focal segmental glomerulosclerosis, ... ORPHA:567546
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Holoprosencephaly, Pulmonary hypoplasia, Broad nasal tip, Depressed na... ORPHA:250999
Neu-Laxova Syndrome
Polyhydramnios, Spina bifida, Pachygyria, Absent septum pellucidum, Abnormality of neuronal migra... ORPHA:2671
Intermediate Nemaline Myopathy
Polyhydramnios, Respiratory failure ORPHA:171433
Kinsship Syndrome
Horseshoe kidney, Bulbous nose, Renal hypoplasia, Death in infancy, Primary microcephaly, Microce... OMIM:619297
Kagami-Ogata Syndrome
Polyhydramnios, Patent ductus arteriosus, Laryngomalacia, Pulmonary hypoplasia, Pulmonary arteria... OMIM:608149
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydrocephalus, Dilation o... OMIM:602200
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Abnormality of the ... ORPHA:818
Genitopatellar Syndrome
Polyhydramnios, Agenesis of corpus callosum, Periventricular heterotopia, Micropenis, Multicystic... OMIM:606170
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory failure, Microcephaly,... OMIM:609981
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Pulmonary hypoplasia ORPHA:1486
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Bifid epiglottis, Hydrops fetalis, Renal hypoplasia, Respiratory insuffic... ORPHA:93271
Tetrasomy 5P
Short nose, Hydrocephalus, Respiratory distress, Lipoma of corpus callosum, Wide nasal bridge, Pu... ORPHA:3309
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Depressed nasal bridge OMIM:617757
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Polyhydramnios, Hypoplasia of the corpus callosum, Respiratory failure requir... ORPHA:496641
Fetal Akinesia Deformation Sequence
Polyhydramnios, Pulmonary hypoplasia, Respiratory insufficiency, Depressed nasal bridge ORPHA:994
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Choanal atresia, Pulmonary hypoplasia, Peripheral pulmonary ves... OMIM:273395
Esophageal Atresia
Polyhydramnios, Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary ... ORPHA:1199
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Enuresis nocturna, Abnor... ORPHA:420741
Joubert Syndrome 30
Apnea, Molar tooth sign on MRI, Tachypnea, Gray matter heterotopia OMIM:617622
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Pulmonary hypoplasia, Simplified gyra... OMIM:251230
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Cerebral calcification, Aqueductal stenosis ORPHA:3035
Tarp Syndrome
Apnea, Horseshoe kidney, Wide nasal bridge, Abnormal corpus callosum morphology, Pulmonary hypopl... ORPHA:2886
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Neonatal respiratory distress, Edema, Renal insuffic... OMIM:256300
Ulnar-Mammary Syndrome
Renal hypoplasia, Laryngomalacia, Hypoplasia of penis ORPHA:3138
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Hydronephrosis, Respiratory failure, Hypospadias, Hydrocep... OMIM:304120
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Dupli... OMIM:118450
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis, Spina bifida occulta OMIM:151100
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Cerebral atrophy, Unilateral ren... ORPHA:191
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Short nose, Anteverted nares, Aplasia/Hypoplasia of the corpus callo... OMIM:617822
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Patent ductus arteriosus, Pulmona... OMIM:256520
Acrorenal-Mandibular Syndrome
Oligohydramnios, Abnormality of the ureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Re... OMIM:200980
Boutonneuse Fever
Renal insufficiency, Respiratory failure ORPHA:83313
Mosaic Trisomy 16
Abnormal lung morphology, Horseshoe kidney, Large placenta, Patent ductus arteriosus, Pulmonary h... ORPHA:1708
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Pulmonary hypoplasia, Hydrops fetalis, Depressed nasal bridge ORPHA:85166
Renal Agenesis, Bilateral
Oligohydramnios, Sirenomelia, Pulmonary hypoplasia, Renal agenesis, Tracheoesophageal fistula ORPHA:1848
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Renal agenesis, Recurrent urinary tract infections, Patent ductus arteriosus, M... OMIM:613680
Ulbright-Hodes Syndrome
Respiratory distress, Oligohydramnios, Renal hypoplasia, Abnormal penis morphology, Pulmonary hyp... ORPHA:3404
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Fontaine Progeroid Syndrome
Short nose, Oligohydramnios, Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of ... OMIM:612289
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Oligohydramnios OMIM:271520
Joubert Syndrome With Ocular Defect
Apnea, Agenesis of corpus callosum, Anteverted nares, Polymicrogyria, Abnormal pattern of respira... ORPHA:220493
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Respiratory failure, Respiratory insufficiency, Myoglobinuria OMIM:609015
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:312150
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Pu... ORPHA:70578
Acro-Renal-Mandibular Syndrome
Oligohydramnios, Pulmonary hypoplasia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnor... ORPHA:958
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypop... ORPHA:2847
Tracheal Agenesis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Schinzel-Giedion Syndrome
Recurrent pneumonia, Short nose, Respiratory distress, Hypoplasia of the corpus callosum, Umbilic... ORPHA:798
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Anteverted nares OMIM:601163
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Stillbirth, Choanal atresia, Patent ductus arteriosus, Pulm... OMIM:275210
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology, Hydroc... ORPHA:163961
Thanatophoric Dysplasia Type 1
Polyhydramnios, Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus, Respiratory ins... ORPHA:1860
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:253290
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Agenesis of corpus callosum, Underdeveloped nasal alae, Anterior pituitary hypo... ORPHA:264200
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Penile hypospadias, Bladder duplication, Rectourethral fist... ORPHA:237
Oculoauriculovertebral Spectrum With Radial Defects
Laryngeal stridor, Aplasia/Hypoplasia of the lungs, Vesicoureteral reflux, Renal hypoplasia/aplas... ORPHA:2549
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Respiratory failure, Abnormal brainstem morphology ORPHA:98755
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Hypoventilation, Pachygyria, Pontocerebellar atrophy, Re... ORPHA:258
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia, Patent ductus arteriosus, Oligohydramnios OMIM:616866
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Obstructive sleep apnea, Hypoventilation, Cardiorespiratory arrest, Recu... ORPHA:293987
Syndromic Diarrhea
Renal hypoplasia, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Wide nasal brid... ORPHA:84064
8Q24.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Branchial cyst, Hypoplasia of the corpus callosum, Unilate... ORPHA:508488
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Short nose, Umbilical hernia, Aplasia/Hypoplasia of the lungs, A... ORPHA:932
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Restrictive ventilatory defect, Short nose, Respiratory distress, Oligohydramnios... ORPHA:536467
Fanconi Anemia, Complementation Group B
Hydrocephalus, Hypoplasia of the corpus callosum, Death in infancy, Patent ductus arteriosus, Ren... OMIM:300514
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Respiratory fail... ORPHA:444013
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Greenberg Dysplasia
Polyhydramnios, Abnormal lung lobation, Tracheal calcification, Stillbirth, Pleural effusion, Neo... OMIM:215140
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Pulmonary hypoplasia, Neonatal respiratory distress, Umbilical hernia OMIM:265000
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Cerebral atrophy, Caudate atrophy ORPHA:363400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Renal hypoplasia, Microcephaly, Micropenis, Hydrocephalus OMIM:619321
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Neonatal death, Pulmonary hypoplasia, Micropenis, Depr... OMIM:617925
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hypoplasia of the corpus callosum, Cerebral atrophy, Respiratory failure, Abnormal periventricula... OMIM:615838
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Prominent nasal bridge, Abnormalit... ORPHA:261222
Joubert Syndrome 28
Molar tooth sign on MRI, Wide nasal bridge OMIM:617121
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Reduced vital... ORPHA:98913
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Short nose, Umbilical hernia, Aplasia/Hypoplasia of the lungs, A... ORPHA:93298
Poland Syndrome
Renal hypoplasia, Duplicated collecting system, Vesicoureteral reflux, Spina bifida occulta, Hypo... ORPHA:2911
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Respiratory failure, Recurrent respiratory infections ORPHA:3226
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Apnea, Renal agenesis, Aplasia/Hypoplasia of the corpus callosum, Episodi... ORPHA:2754
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy OMIM:618233
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Dehydration, Respiratory fail... ORPHA:1549
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Short nose, Umbilical hernia, Aplasia/Hypoplasia of the lungs, A... ORPHA:93299
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Respiratory insufficiency, Multicystic ki... ORPHA:2973
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Bulbous nose, Pachygyria, Recurrent urinary tract infecti... ORPHA:3310
Geleophysic Dysplasia 3
Polyhydramnios, Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal br... OMIM:617809
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hy... OMIM:601559
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Polymicrogyria, Respiratory failure, Death in infancy OMIM:610678
Penoscrotal Transposition
Renal agenesis, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Cerebral c... ORPHA:2842
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Decreased response to growth ho... ORPHA:1263
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Laryngospasm, Xerostomia, Respiratory failure ORPHA:803
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure, Anteverted nares, Bulbous nose OMIM:616505
Renpenning Syndrome 1
Bulbous nose, Renal hypoplasia, Cerebral atrophy, Microcephaly, Wide nasal bridge, Death in child... OMIM:309500
Coffin-Siris Syndrome 1
Partial agenesis of the corpus callosum, Hydroureter, Renal hypoplasia, Hypoplasia of the corpus ... OMIM:135900
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology, Asthma, Hypospadias, Mic... ORPHA:8
Williams Syndrome
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Patent ductus arteriosu... ORPHA:904
Charge Syndrome
Horseshoe kidney, Renal hypoplasia, Arrhinencephaly, Holoprosencephaly, Choanal atresia, Microcep... OMIM:214800
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cerebral edema, Death in infancy, Leukoencephalopathy OMIM:617186
Microform Holoprosencephaly
Panhypopituitarism, Short nose, Holoprosencephaly, Choanal atresia, Microcephaly, Asthma, Hypopla... ORPHA:280200
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... ORPHA:370959
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Peripheral edema, Orthopnea, Pedal edema, Crackles, Respiratory fail... ORPHA:563
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Death in infancy, Patent ductus arteriosus, Resp... ORPHA:1120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Polymicrogyria, Respiratory failure, Agyria, Cerebral calcific... OMIM:616538
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia, Hydrops fetalis, Oligohydramnios OMIM:617022
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Sandestig-Stefanova Syndrome
Primary microcephaly, Hypoplasia of the corpus callosum, Respiratory failure, Wide nasal bridge OMIM:618804
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Digeorge Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Umbilical hernia, Renal dysplasia, Hydroneph... OMIM:188400
Nijmegen Breakage Syndrome
Pollakisuria, Recurrent sinopulmonary infections, Abnormality of neuronal migration, Prominent no... ORPHA:647
Distal Monosomy 15Q
Microcephaly, Patent ductus arteriosus, Multicystic kidney dysplasia, Abnormal localization of ki... ORPHA:1596
Orofaciodigital Syndrome Type 4
Renal agenesis, Short nose, Oligohydramnios, Choanal atresia, Laryngomalacia, Subcortical cerebra... ORPHA:2753
Okamoto Syndrome
Unilateral renal hypoplasia, Short nose, Underdeveloped nasal alae, Oligohydramnios, Hypoplasia o... ORPHA:2729
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Pulmonary hypoplasia, Hydrone... ORPHA:83617
Pelizaeus-Merzbacher Disease, Connatal Form
Laryngeal stridor, Macrogyria, Respiratory failure, Abnormal morphology of musculature of pharynx... ORPHA:280210
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Hypoplasia of the corpus callosum, Respiratory failure, Hyperintensity of cerebr... ORPHA:88618
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Cavum septum pellucidum, Short umbilical cord, Stillbirth, Absent septum pellucid... OMIM:208150
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed nasal bridge ORPHA:2635
Cardiac-Urogenital Syndrome
Scimitar anomaly, Patent ductus arteriosus, Pulmonary hypoplasia, Patent urachus, Bronchomalacia,... OMIM:618280
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Schisis Association
Spina bifida, Anencephaly, Renal agenesis, Microcephaly, Tracheoesophageal fistula ORPHA:63862
Costello Syndrome
Polyhydramnios, Obstructive sleep apnea, Cerebral atrophy, Tracheomalacia, Respiratory insufficie... OMIM:218040
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Osteogenesis Imperfecta
Hydrocephalus, Brain stem compression, Umbilical hernia, Hypercalciuria, Neonatal respiratory dis... ORPHA:666
Townes-Brocks Syndrome 1