Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAF bZIP transcription factor B
Synonyms:
Kreisler,  Krml,  Krml1

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 Mafb 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.

The table below shows human diseases associated to Mafb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Duane Retraction Syndrome
Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... ORPHA:233
Duane Retraction Syndrome 3 With Or Without Deafness
Hearing impairment OMIM:617041

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Pontocerebellar Hypoplasia Type 4
Hypoplasia of the brainstem, Central apnea, Olivopontocerebellar hypoplasia, Respiratory failure ... ORPHA:166063
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Hyper... OMIM:235400
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Ravine Syndrome
Abnormal brainstem morphology, Apnea, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:2613
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Atrophy/Degeneration affecting the brainstem, Apnea, Respiratory failure, Death in infancy OMIM:616277
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Renal Tubular Dysgenesis
Renotubular dysgenesis, Hypotension, Abnormality of the urinary system, Anuria OMIM:267430
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure OMIM:263000
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Immunodeficiency 95
Respiratory distress, Respiratory failure OMIM:619773
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dysp... OMIM:265120
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... OMIM:174000
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus OMIM:618709
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Respiratory failure, Neonatal death OMIM:610127
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Decreased body weight OMIM:618347
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Failure to thrive, Mild proteinuria OMIM:301108
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... ORPHA:99885
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome, Acrocyanosis OMIM:123540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Sensor... OMIM:619351
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea, Neonatal respiratory distress OMIM:267450
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Mpdu1-Cdg
Renal cortical cysts, Absence of acoustic reflex, Elevated circulating creatine kinase concentration ORPHA:79323
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Death in infancy OMIM:609180
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Respiratory failure, Death in infancy, Hypoplasia of the brainstem OMIM:225753
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria OMIM:230400
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal ... OMIM:610921
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Respiratory failure requiring assisted... ORPHA:70589
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Bardet-Biedl Syndrome 16
Renal agenesis, Hearing impairment, Recurrent otitis media, Stage 5 chronic kidney disease, Renal... OMIM:615993
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... OMIM:123550
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Succinic Acidemia
Respiratory distress OMIM:600335
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Elevated circulating creatinine concentration, Abnormal renal corticomedullar... OMIM:616733
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia, Respiratory failure requiring assisted ventilation ORPHA:140896
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... ORPHA:439232
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity OMIM:619269
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac... OMIM:609425
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst, Neonatal death OMIM:614870
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Apnea, Central hypoventilation OMIM:300673
Joubert Syndrome 9
Episodic tachypnea, Apnea, Molar tooth sign on MRI OMIM:612285
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hydrocephalus, Hyperactivity OMIM:619470
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se... ORPHA:90646
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:614399
Joubert Syndrome 7
Hypoplasia of the brainstem, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Central apnea, M... OMIM:611560
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Yellow Fever
Acute kidney injury, Abnormal bleeding, Anuria, Shock, Elevated circulating creatinine concentrat... ORPHA:99829
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory failure, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Joubert Syndrome 30
Tachypnea, Apnea, Molar tooth sign on MRI OMIM:617622
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Decreased serum cre... ORPHA:54057
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal hemorrhage, Elevated circulating creatine kinase concentration, Hema... OMIM:611773
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood, Atrophy/Degeneration affecting the brainstem OMIM:611523
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... ORPHA:1909
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... OMIM:603860
High Altitude Pulmonary Edema
Vertigo, Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Congenital Myopathy 11
Apneic episodes in infancy, Neonatal respiratory distress OMIM:619967
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Glutamine Deficiency, Congenital
Erythema, Neonatal respiratory distress, Apnea, Neonatal death OMIM:610015
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca... ORPHA:159
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea... OMIM:602588
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Myocard... ORPHA:188
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased... ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Lassa Fever
Oliguria, Abnormal bleeding, Hearing impairment, Shock, Miscarriage ORPHA:99824
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven... ORPHA:542323
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Hypospadias, Abnormal helix morphology, Aortic regurgitation, Hearing impairment, T... OMIM:614866
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Low-set ears, Abnormal helix morphology, Hearing impairment, Death in childhood, S... OMIM:214100
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Subcutane... ORPHA:727
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal burst... OMIM:618718
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
C Syndrome
Low-set ears, Renal cortical cysts, Posteriorly rotated ears, Patent ductus arteriosus OMIM:211750
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Respiratory failure, Hypoxemia ORPHA:178320
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pontocerebellar Hypoplasia, Type 16
Apnea, Hypoplasia of the pons OMIM:619527
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia... OMIM:300539
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi... ORPHA:31824
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation ORPHA:264675
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Mosaic Trisomy 1
Low-set ears, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Abnormal pinna mo... ORPHA:1692
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Hyperechogenic kidneys, Low-set, posteriorly rotated ears, Renal cortical cysts, Re... ORPHA:397715
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Usher Syndrome Type 3
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231183
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Laryngomalacia
Respiratory distress OMIM:150280
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Hearing impairment OMIM:248510
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Developmental And Epileptic Encephalopathy 99
Central apnea, Atrophy/Degeneration affecting the brainstem OMIM:619606
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Abnormal bleeding... ORPHA:91547
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea, Abnormal brainstem MRI signal intensity ORPHA:444013
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux, Uplifted earlobe OMIM:618548
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Decreased H... ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Laryngotracheoesophageal Cleft
Dyspnea, Neonatal respiratory distress, Cyanosis ORPHA:2004
Breath-Holding Spells
Cyanosis OMIM:607578
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Abnormal pinna morphology, Hyperactivity OMIM:300983
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyuria OMIM:222100
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem... ORPHA:173
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Pontocerebellar Hypoplasia Type 2
Apnea, Hypoplasia of the ventral pons, Hypoplasia of the brainstem ORPHA:2524
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Acquired Methemoglobinemia
Respiratory distress, Vertigo, Cyanosis, Dyspnea, Hypoxemia ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Dyspnea, Hypoxemia, Respiratory failure, Respirato... ORPHA:723
Leigh Syndrome, Nuclear
Focal substantia nigra T2 hyperintensity, Respiratory failure, Abnormal pattern of respiration, R... OMIM:256000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Arrhythmia, Polycystic kidney dysplasia, Renal dysplasia, Elevated circulating crea... OMIM:608836
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Reduce... OMIM:602522
Lambert Syndrome
Branchial anomaly ORPHA:1296
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Bor Syndrome
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Stenosi... ORPHA:107
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy OMIM:615042
Coach Syndrome 2
Apneic episodes in infancy, Molar tooth sign on MRI OMIM:619111
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Respiratory failure OMIM:614299
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Respiratory failure OMIM:620326
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst, Trismus OMIM:609166
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Aggressive behavior, Hydrocephalus, Hyperactivity, Restlessness, Agitation OMIM:300558
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Low-... OMIM:222470
Pseudo-Torch Syndrome 3
Apnea, Death in infancy, Respiratory insufficiency OMIM:618886
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Abnormal pattern of respiration OMIM:608800
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne... OMIM:130650
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Umbilical hernia, Attention deficit hyperactivity disorder, Repetitive compulsive b... ORPHA:352490
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Acute Monoblastic/Monocytic Leukemia
Oliguria, Progressive hearing impairment ORPHA:514
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Macrotia OMIM:300934
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Joubert Syndrome 3
Episodic tachypnea, Elongated superior cerebellar peduncle, Central apnea, Molar tooth sign on MRI OMIM:608629
Malaria
Respiratory distress ORPHA:673
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... OMIM:618426
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia, Respiratory fa... ORPHA:2302
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:1302
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy... OMIM:619487
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency OMIM:608093
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure OMIM:312170
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media OMIM:619466
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Respiratory insufficiency OMIM:617239
Otosclerosis 10
Otosclerosis OMIM:615589
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Apnea, Death in infancy, Central hypoventilation OMIM:620167
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Respiratory failure, Respiratory insufficiency ORPHA:370968
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Aqueductal stenosis, Respiratory failure, Stillbirth OMIM:276950
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Abnormal brainstem morphology ORPHA:163961
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Transient ischemic atta... OMIM:274150
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th... ORPHA:1830
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati... OMIM:619902
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Respiratory failure, Death in childhood, Atrophy/Degeneration affecting the brainstem OMIM:615838
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large v... ORPHA:49041
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy, Macrotia ORPHA:391307
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Umbilical hernia, Oppositi... ORPHA:580
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ... OMIM:620141
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia, Respira... OMIM:610913
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Progressive conductive hearing impairment, Aggressive behav... ORPHA:529962
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... OMIM:620375
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Thickened helices, Motor ster... OMIM:614104
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Small for gestational age OMIM:215250
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... ORPHA:31826
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Oliguria, Congestive heart failure ORPHA:1054
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Respiratory failure OMIM:250940
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Failure to thrive, Membranoproliferative glomerulonephritis OMIM:619858
Branchiogenic Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Conductive hearing imp... ORPHA:50815
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Excessive bleeding after a venipuncture, Ecchy... ORPHA:319213
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia... OMIM:619003
Sepsis In Premature Infants
Hypotension, Oliguria, Abnormal bleeding, Reversible renal failure, Petechiae, Bradycardia, Eleva... ORPHA:90051
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... OMIM:301013
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Absent internal auditory canal, Hypoplasia of the cochlea, Profound sens... OMIM:620469
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Say Syndrome
Macrotia, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Elevated circulating creatinine concentration, Renal insufficiency, Death in infanc... OMIM:617478
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Neuropathy, Hereditary Sensory And Autonomic, Type Iii