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Gene: Mafb MGI:104555

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Duane Retraction Syndrome
Narrow internal auditory canal, External ear malformation, Sensorineural hearing impairment, Sten... 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
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Hypoplasia of the brainstem, O... ORPHA:166063
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Ravine Syndrome
Apnea, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Atrophy/Degeneration affecting the brainstem OMIM:616277
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Atrial fibrillation, Dysuri... ORPHA:976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... 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
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Death in infancy, Respiratory failure, Hypoplasia of the brainstem OMIM:225753
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Pr... OMIM:231680
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Joubert Syndrome 33
Molar tooth sign on MRI, Apnea OMIM:617767
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Succinic Acidemia
Respiratory distress OMIM:600335
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Joubert Syndrome 30
Molar tooth sign on MRI, Tachypnea, Apnea OMIM:617622
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight OMIM:618347
Joubert Syndrome 7
Central apnea, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Hypoplasia of the brainstem, M... OMIM:611560
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Joubert Syndrome 9
Molar tooth sign on MRI, Apnea, Episodic tachypnea OMIM:612285
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive OMIM:230400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Patent ductus arteriosus, Sensorineural hearing impairment, Megacystis, Pyelonephritis, B... OMIM:619351
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Mpdu1-Cdg
Elevated circulating creatine kinase concentration, Absence of acoustic reflex, Renal cortical cysts ORPHA:79323
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... OMIM:615993
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Renal cortical cysts OMIM:609180
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Pontocerebellar Hypoplasia, Type 6
Atrophy/Degeneration affecting the brainstem, Apnea, Death in childhood OMIM:611523
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Neonatal death, Renal cyst OMIM:614870
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Yellow Fever
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase conce... ORPHA:99829
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Pontocerebellar Hypoplasia, Type 16
Hypoplasia of the pons, Apnea OMIM:619527
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Erythema, Apnea OMIM:610015
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... ORPHA:54057
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... OMIM:611773
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... ORPHA:1909
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Respiratory failure, Respiratory insufficiency ORPHA:370968
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... ORPHA:544482
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recu... OMIM:300624
Coach Syndrome 2
Molar tooth sign on MRI, Apneic episodes in infancy OMIM:619111
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Developmental And Epileptic Encephalopathy 99
Central apnea, Atrophy/Degeneration affecting the brainstem OMIM:619606
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough OMIM:234810
Malaria
Respiratory distress ORPHA:673
Lassa Fever
Abnormal bleeding, Shock, Miscarriage, Oliguria, Hearing impairment ORPHA:99824
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Molar tooth sign on MRI, Elongated superior cerebellar peduncl... OMIM:608629
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Posteriorly rotated ears, Patent ductus arteriosus, Sensorineural hearing impairment... OMIM:214100
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... ORPHA:727
Nephronophthisis 16
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Aortic valve steno... OMIM:615382
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
C Syndrome
Low-set ears, Patent ductus arteriosus, Posteriorly rotated ears, Renal cortical cysts OMIM:211750
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:620270
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the ventral pons, Hypoplasia of the brainstem, Apnea ORPHA:2524
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... ORPHA:31824
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Hypospadias, Conjugated hyperbil... OMIM:614866
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea ORPHA:163961
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Respiratory failure, Abnormal pattern of respiration, R... OMIM:256000
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Mosaic Trisomy 1
Abnormal pinna morphology, Renal cortical cysts, Renal cyst, Low-set ears, Micropenis, Penile hyp... ORPHA:1692
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Pontocerebellar Hypoplasia Type 1
Hypoplasia of the pons, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Illum Syndrome
Apnea OMIM:208155
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Renal insufficiency, Hypospadias, Overfolded helix, Renal cort... ORPHA:397715
Slc35A1-Cdg
Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... OMIM:613390
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Aggressive behavior OMIM:300983
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Breath-Holding Spells
Cyanosis OMIM:607578
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Miscarriage, Abnormal blood ion concen... ORPHA:173
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... OMIM:619525
Idiopathic Bronchiectasis
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... ORPHA:60033
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Low-set ears... ORPHA:352490
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Renal insufficiency, Purpur... ORPHA:85450
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... OMIM:618061
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Uplifted earlobe, Renal cortical cysts OMIM:618548
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Lambert Syndrome
Branchial anomaly ORPHA:1296
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency OMIM:608093
Relapsing Fever
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... ORPHA:91547
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Alpha-1-Antitrypsin Deficiency
Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronchiectasis, Cough OMIM:613490
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... ORPHA:220393
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the m... ORPHA:107
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia OMIM:300558
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Decreased plasma free c... OMIM:608836
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Apnea OMIM:617563
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Interstitial Lung Disease 2
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea OMIM:178500
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus OMIM:609166
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Atrophy/Degeneration affecting the brainstem, Death in childhood OMIM:615838
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Oliguria ORPHA:514
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicoureteral reflux, N... OMIM:130650
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hypospadias, Galactosuria, Microtia, Hypoalbuminemia, Pulmonic stenosis, Lo... OMIM:222470
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Otosclerosis 10
Otosclerosis OMIM:615589
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
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
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Joubert Syndrome 20
Molar tooth sign on MRI, Respiratory insufficiency OMIM:614970
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... OMIM:274150
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Solar Urticaria
Dyspnea, Wheezing, Angioedema, Urticaria, Dermatographic urticaria ORPHA:97230
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... ORPHA:83463
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... ORPHA:391307
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Sta... ORPHA:1830
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced... OMIM:619902
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Multicystic kidney dysplasia, Protruding ear ORPHA:3270
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Spinocerebellar Ataxia Type 1
Respiratory failure, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ... OMIM:263200
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Senso... ORPHA:580
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Hydronephrosis, ... OMIM:154230
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... OMIM:614104
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Excessive blee... ORPHA:319213
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, ... ORPHA:90051
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment ORPHA:140976
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Say Syndrome
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... ORPHA:31826
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur ORPHA:1054
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azo... ORPHA:8
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
17Q24.2 Microdeletion Syndrome
Otosclerosis, Aggressive behavior, Secondary amenorrhea, Microtia, Recurrent otitis media, Progre... ORPHA:529962
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypouricemia, Chronic kidney disease, Hypovolemia... ORPHA:411634
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst,... OMIM:617478
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... OMIM:618342
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Dyspnea, Restrictive ventilatory defect, Cough, Dec... OMIM:619611
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Tachypnea, Apnea ORPHA:2318
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Apnea, Abnormal pattern of respiration ORPHA:220497
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... ORPHA:133
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Genitopalatocardiac Syndrome
Low-set ears, Hypospadias, Renal cyst OMIM:231060
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiom... OMIM:619003
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card... OMIM:614922
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea OMIM:241500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Stage 5 chronic kidney disease, Foca... OMIM:242900
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... ORPHA:731
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E... ORPHA:247691
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... OMIM:617695
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin... ORPHA:3306
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Death in adolescence, Proximal tubulopathy, Death in childhood, Hearing impairment OMIM:560000
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... OMIM:610205
Fatal Familial Insomnia
Apnea OMIM:600072
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Stt3B-Cdg
Respiratory distress ORPHA:370924
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Narrow internal auditory canal, Hearing impairment ORPHA:207
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Combined Oxidative Phosphorylation Deficiency 34
Congenital sensorineural hearing impairment, Elevated circulating creatinine concentration, Incre... OMIM:617872
Joubert Syndrome 2
Central apnea, Brainstem dysplasia, Episodic tachypnea, Thickened superior cerebellar peduncle, H... OMIM:608091
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Holoprosencephaly, Synotia ORPHA:990
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Apnea, Abnormal pattern of respiration ORPHA:220493
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior ORPHA:382
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Branchial anomaly, Micrognathia, Webbed neck ORPHA:1131
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Hypoplasia of the brainstem, Elongated superior cerebellar p... OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:619092
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Hypoplasia of the brainstem, Apnea OMIM:614969
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... OMIM:232200
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Alg1-Cdg
Respiratory failure ORPHA:79327
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal semicircular canal morp... ORPHA:87
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Apnea, Death in childhood OMIM:214110
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoal... OMIM:608104
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Pontocerebellar atrophy, Telangiectasia OMIM:608799
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Low-set ears, Neonatal death, Renal ... OMIM:236500
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco... OMIM:616026
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, Onychotillomania, Abnorm... OMIM:182290
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Failure to t... OMIM:276700
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Christianson Syndrome
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase... ORPHA:466650
Xq28 (MECP2) duplication
Macrotia, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... ORPHA:88619
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Petechiae, Purpura OMIM:608013
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Fa... OMIM:613404
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circula... ORPHA:230
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing impairment, Sta... OMIM:613159
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... OMIM:600430
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Primary Familial Polycythemia
Dyspnea, Exertional dyspnea, Epistaxis, Cough ORPHA:90042
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:613677
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Umbilical ... OMIM:617751
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... OMIM:232220
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurre... OMIM:620300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Joubert Syndrome 1
Central apnea, Brainstem dysplasia, Episodic tachypnea, Hypoplasia of the brainstem, Molar tooth ... OMIM:213300
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Low-set ... OMIM:618885
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Buerger Disease
Acrocyanosis ORPHA:36258
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe ORPHA:411986
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Ab... ORPHA:500159
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Bruising susceptibility, Petechiae ORPHA:1959
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... OMIM:618917
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Umbilical hernia, Abnormal... OMIM:618914
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Death in childhood OMIM:602579
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Proteinuria, Abnormality of the kidney ORPHA:369
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Chronic Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529808
Bacterial Toxic-Shock Syndrome
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... ORPHA:36234
Acute Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529799
Verheij Syndrome
Branchial cyst, Retrognathia, Short neck OMIM:615583
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae OMIM:602473
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Transketolase Deficiency
Renal cyst, Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention defici... ORPHA:488618
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Death in infancy ORPHA:178481
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias OMIM:250790
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, ... OMIM:123450
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Mandibular prognathia ORPHA:435938
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment OMIM:610883
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypertension, Hypokalem... OMIM:612780
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hy... OMIM:618183
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H... OMIM:618161
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... OMIM:232240
Snijders Blok-Campeau Syndrome
Umbilical hernia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-s... OMIM:618205
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Distal Deletion 10Q
Aggressive behavior, Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear ... ORPHA:96148
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Teratoma, Pineal
Polyuria OMIM:273120
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Apnea OMIM:609069
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Moebius Syndrome
Respiratory distress, Hypoplasia of the brainstem OMIM:157900
Necrotizing Enterocolitis
Apnea ORPHA:391673
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi... ORPHA:228402
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Pulmonary ar... ORPHA:258
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing i... OMIM:606164
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... ORPHA:29073
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment OMIM:300406
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Apnea, Episodic tachypnea ORPHA:2754
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Vertigo, Ventricular ta... OMIM:263800
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Melas
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy, Failure to th... ORPHA:550
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre... ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Joubert Syndrome 17
Molar tooth sign on MRI, Hyperventilation OMIM:614615
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Joubert Syndrome 6
Breathing dysregulation, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior... OMIM:610688
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Cryptorchidism, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnor... OMIM:300260
Branchiootic Syndrome
Branchial fistula, Micrognathia ORPHA:52429
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H... ORPHA:228308
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure ORPHA:88618
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal helix morphology, ... ORPHA:401777
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent te... OMIM:619103
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Impotence, Progressive hearing impairment, Disinhibition, Att... ORPHA:43
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia OMIM:617802
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea ORPHA:20
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency ORPHA:521426
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Premature sk... OMIM:601559
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Attention deficit hyperactivity disorder, Low-set ears,... OMIM:619293
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Abnormal repetitive mannerisms OMIM:617807
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc... OMIM:609136
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... ORPHA:358
Joubert Syndrome 8
Molar tooth sign on MRI, Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Cryptorchidism, Dysphagia, Macrotia, Abnormal repetitive manner... OMIM:619435
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Failure ... ORPHA:213
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set e... OMIM:619575
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Flushing ORPHA:2131
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... ORPHA:18
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Telangi... ORPHA:420741
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cyanosis, Hearing impairment ORPHA:391428
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Beckwith-Wiedemann Syndrome
Otosclerosis, Large placenta, Cryptorchidism, Wide anterior fontanel, Abnormal earlobe morphology... ORPHA:116
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Acrocyanosis, Macrotia OMIM:614407
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Genitopatellar Syndrome
Apnea ORPHA:85201
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Glass Syndrome
Apnea OMIM:612313
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re... OMIM:300912
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy,... OMIM:615415
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Cleft helix, ... ORPHA:137888
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Enlarged k... ORPHA:251004
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Macrotia, Cyanosis, Protruding ear ORPHA:3304
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Brain stem compression OMIM:100800
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Mucopolysaccharidosis Type 2, Severe Form
Conductive hearing impairment, Umbilical hernia, Sensorineural hearing impairment, Otosclerosis ORPHA:217085
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic s... ORPHA:110
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Mucopolysaccharidosis Type 2, Attenuated Form
Conductive hearing impairment, Umbilical hernia, Sensorineural hearing impairment, Otosclerosis ORPHA:217093
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Ectopic kidney, Microtia, Atresia of the external... OMIM:613309
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine ORPHA:289601
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Large earlobe, Low-set ears, Dysphagia, Conductive hearing impa... OMIM:619312
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea ORPHA:26793
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing abnormality, Renal cyst,... ORPHA:2031
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral sensorineural hea... ORPHA:2306
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Meckel Syndrome, Type 10
Abnormal pinna morphology, Micropenis, Hypospadias, Renal cyst OMIM:614175
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Abnormal re... OMIM:610253
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores... ORPHA:3342
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Multiple renal ... OMIM:618733
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... ORPHA:99826
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... ORPHA:84081
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Tubulointerstiti... ORPHA:488627
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Coach Syndrome 1
Portal hypertension, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chr... OMIM:216360
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... ORPHA:363705
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Hyperactivity, Hearing impairment OMIM:252900
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest OMIM:619879
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia ORPHA:79279
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Prolonged prothrombin time, Hyperbilirubin... ORPHA:79303
Cystinosis, Nephropathic
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... OMIM:219800
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Compulsive behaviors, Attention deficit hyperactivity disorder, Con... ORPHA:1001
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intensity, Jaundice, ... ORPHA:533
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Telangiectasia, Cough, Pulmonary arterial hyper... OMIM:178600
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... OMIM:616393
Joubert Syndrome 39
Hypopnea, Molar tooth sign on MRI OMIM:619562
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Respiratory failure, Focal T2 hyperintense brainstem les... ORPHA:506
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr... OMIM:602535
Ogden Syndrome
Cryptorchidism, Macrotia, Low-set ears, Abnormal head movements ORPHA:276432
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... ORPHA:261265
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Pfeiffer Syndrome Type 3
Respiratory distress, Aqueductal stenosis, Tracheomalacia ORPHA:93260
Japanese Encephalitis
Respiratory distress, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnorma... ORPHA:79139
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Impulsivity, Protruding ear, Microtia, Attention deficit hyperacti... OMIM:301030
Houge-Janssens Syndrome 3
Umbilical hernia, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hype... OMIM:618354
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Microtia, Atresia of the external auditory canal, Low-set ears, Conductive ... OMIM:610536
Huntington Disease-Like 1
Restlessness, Jerky head movements, Abnormal head movements ORPHA:157941
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Patent ductus arterios... OMIM:208540
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Sens... OMIM:619512
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary arterial hypertension ORPHA:228116
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Myelopathy, Dysphagia, Male hypogonadism, Hearing impairment ORPHA:139396
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration,... ORPHA:552
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Cryptorchid... ORPHA:794
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... OMIM:616364
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Hydrocephalus, Macrotia OMIM:617281
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... OMIM:267010
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice OMIM:617156
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... OMIM:615656
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... OMIM:212066
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy ORPHA:800
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Hypoplasia of the... ORPHA:2162
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Sensorineural hearing impairment, Attention deficit hyperactivity d... ORPHA:261197
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Charge Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Abnormality of the inner ear, Aplas... ORPHA:138
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... ORPHA:435638
Campomelia, Cumming Type
Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Mixed hearing impairment, Cupped ear, Renal cyst OMIM:615560
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Purpura ORPHA:2330
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Dravet Syndrome
Cyanotic episode ORPHA:33069
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Cryptorchid... ORPHA:96121
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Conjugated hyperbilirubinem... OMIM:208500
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive hearing impairment,... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Underfolded superior helices, Attention deficit hyperactivity dis... OMIM:300352
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Normal pressure hydrocephalus, Bilateral sensorineural hearing ... ORPHA:300570
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia OMIM:607143
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Failure to thrive, Small for gestational age, Mild proteinuria OMIM:619147
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism, Protruding ear OMIM:613454
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Apnea, Chronic rhinitis ORPHA:667
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d... ORPHA:2237
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Pericarditis, Proteinuria, Renal cyst, Death in childhood, Nephrotic syndrome, ... OMIM:212065
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem morphology, Olivopontocer... ORPHA:370959
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Protruding ear, Polycystic kidney dysplasia, Bruxism, Macr... OMIM:606232
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Hearing impairment OMIM:600901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:453499
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Wolfram Syndrome
Central apnea, Respiratory insufficiency ORPHA:3463
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Renal cyst, Horseshoe kidney, Low-set ears, Macrotia ORPHA:166035
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Wide anterior fontanel, Abnormal temper tantrums, Low-set ears, Abnormal rep... ORPHA:457279
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Papa Syndrome
Proteinuria ORPHA:69126
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Kleefstra Syndrome
Aggressive behavior, Cryptorchidism, Self-mutilation, Renal cyst, Self-injurious behavior, Thicke... ORPHA:261494
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea OMIM:300373
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media OMIM:619774
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Sensorineural hearing impairment, Renal cyst OMIM:601539
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Hearing impairment OMIM:227650
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Joubert Syndrome 14
Posteriorly rotated ears, Renal cyst, Intracranial hemorrhage, Hypertension, Low-set ears OMIM:614424
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial hypertension, ... OMIM:300855
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... OMIM:114290
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear ORPHA:2479
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... ORPHA:1435
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Microtia, third degree, Posteriorly rotated ears, Hypo... ORPHA:2554
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Kallmann Syndrome-Heart Disease Syndrome
Sensorineural hearing impairment, Cyanosis, Micropenis ORPHA:2326
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Wide anterior fontanel, Renal cyst, Dysphagia, Neural tu... ORPHA:798
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, Neonatal death, Tricuspid regurgi... OMIM:619534
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Cough ORPHA:137675
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... ORPHA:468678
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion ORPHA:1546
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:861
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Farber Disease
Respiratory distress, Respiratory insufficiency ORPHA:333
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough ORPHA:537
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts ORPHA:400
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Microtia, Low-set ear... OMIM:301040
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Hydrocep... ORPHA:401973
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Fucosidosis
Mucopolysacchariduria, Acrocyanosis, Vascular skin abnormality, Hearing impairment ORPHA:349
Q Fever
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura ORPHA:781
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Von Hippel-Lindau Syndrome
Pancreatic cysts, Sensorineural hearing impairment, Vertigo, Hypertension, Renal cell carcinoma, ... OMIM:193300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Abnormal midbrain morphology, Asthma, Cardior... ORPHA:293987
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... ORPHA:99880
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pitt-Hopkins Syndrome
Cryptorchidism, Cupped ear, Self-injurious behavior, Thickened helices, Abnormal repetitive manne... OMIM:610954
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Osteootohepatoenteric Syndrome
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss OMIM:619377
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Hearing impairment OMIM:227645
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Posteriorly rotated ears, Distal urethral duplication, Ectopic kidn... OMIM:146510
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Norrie Disease
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Se... ORPHA:649
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... ORPHA:143
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Urticaria... ORPHA:3260
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea ORPHA:98754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Dental malocclusion ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Dental malocclusion ORPHA:352665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Cryptorchidism, Lobar holoprosencephaly, Self-injurious behavi... ORPHA:468631
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:168491
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea ORPHA:98793
Fabry Disease
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria OMIM:301500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea ORPHA:177904
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Cryptorchidism, Self-injurious behavior, Low-set ears, Recurrent hand f... OMIM:615485
Semilobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormal pattern of respirati... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormal pattern of respirati... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormal pattern of respirati... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormal pattern of respirati... ORPHA:93924
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea ORPHA:177901
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure, Abnormal pons morphology OMIM:300868
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Micrognathia, Hydrocephalus, Low posterior hairline, We... ORPHA:261337
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Macrotia, Renal cyst, Horseshoe kidney OMIM:250410
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... ORPHA:536467
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia OMIM:610965
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Posteriorly rotated ears, Low-set ears, Hydronephrosis, Hearing impairment OMIM:300968
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Unilateral renal agenesis, Ovarian cyst, Low-set ears, Enlarged kidney OMIM:618188
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:457351
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Patent ductus arteriosus, Renal cyst, Low-set ears, Mitral stenosis, Re... OMIM:617260
Duane Retraction Syndrome
Narrow internal auditory canal, External ear malformation, Sensorineural hearing impairment, Sten... ORPHA:233
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema, Microtia, Atresia of the external auditory can... OMIM:224690
Mend Syndrome
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Low-set ears, Overfolded ... OMIM:300960
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical han... OMIM:619229
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, Sensorineural h... OMIM:610199
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Low-set ears, Hearing impairment OMIM:227646
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial... ORPHA:470
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Ohdo Syndrome
Proteinuria OMIM:249620
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft OMIM:617542
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Cutaneous photosensitivity ORPHA:647
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis OMIM:306955
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction ORPHA:505248
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum OMIM:618325
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephro... ORPHA:369837
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion OMIM:620369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia ORPHA:37042
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Fraser Syndrome 2
Respiratory failure OMIM:617666
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Verti... ORPHA:892
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism ORPHA:79282
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ears, Renal cyst, ... OMIM:257300
Alkuraya-Kucinskas Syndrome
Pleural effusion, Kinked brainstem, Hypoplasia of the brainstem OMIM:617822
Mgat2-Cdg
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Abnormal earlo... ORPHA:79329
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Tick-Borne Encephalitis
Anorexia, Vertigo, Dysphagia, Tinnitus, Abnormality of the vestibular nerve, Hearing impairment ORPHA:297
Charge Syndrome
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... OMIM:214800
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Se... OMIM:618460
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria ORPHA:549
Primary Hyperoxaluria
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... ORPHA:416
Developmental Delay With Or Without Dysmorphic Facies And Autism
Posteriorly rotated ears, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Microphallus, L... OMIM:618454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Head titubation, Repetitiv... OMIM:619475
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Asthma, Erythema, Faci... OMIM:619503
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... OMIM:259900
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Aggressive behavior, Recurrent otitis media, Umbilical hernia, Abnormal... OMIM:301066
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio... ORPHA:2473
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Respiratory failure requiring assisted ventilation ORPHA:83597
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Abetalipoproteinemia
Respiratory failure ORPHA:14
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Macrotia, Sensorineural hearing impairment, Renal cyst, Protruding ear, Nephro... OMIM:617107
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal incisura morphology, Conductive hearing impair... OMIM:122470
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Floating-Harbor Syndrome
Restlessness, Impulsivity, Aggressive behavior, Cryptorchidism, Cochlear malformation, Renal cyst... ORPHA:2044
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth, Macrotia OMIM:616300
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Overfolded helix, Low-set ears, Dysphagia, Small earlob... OMIM:617330
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Dilatation of renal calices, Sensorineural hearing impairment, Asthma, ... ORPHA:466943
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Cryptorchidism, Renal cyst, Protruding ear, Macrotia, Abnormal repetitive mannerisms ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Renal cyst, Protruding ear, Attention deficit hyperactivity disorder, Abnormal re... ORPHA:464311
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Sensorineural hearing ... ORPHA:289176
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re... OMIM:613254
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Horseshoe ki... OMIM:617140
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Decrease... ORPHA:2298
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Jaundice, Aspiration pneumonia ORPHA:646
Penile Agenesis
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Fetal pyelectasis, Bilateral renal... ORPHA:49
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Prader-Willi Syndrome Due To Translocation
Respiratory distress ORPHA:177907
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Cryptorchidism, Sensorineural hear... OMIM:619325
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Obesity OMIM:619471
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Posteriorly rotated ears, Anteverted ears, P... OMIM:616268
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cryptorchidism, Cupped e... OMIM:615873
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Carious teeth, Micrognathia OMIM:620186
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Alveolar Echinococcosis
Portal hypertension, Pancreatic cysts, Vertigo, Renal cyst, Budd-Chiari syndrome, Abnormal bladde... ORPHA:284
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cupped ear, Protruding ear, Low-set ears... OMIM:309590
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Cockayne Syndrome Type 1
Renal insufficiency, Failure to thrive, Proteinuria ORPHA:90321
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Aggressive behavior, Hair-pulling, Polyphagia, Protruding ... OMIM:620330
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Failure to thrive, Increased body weight ORPHA:264580
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, Overfolded helix, Posteriorly rotated ears, Semilobar holoprosenc... OMIM:301044
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem ORPHA:356961
Kinsship Syndrome
Abnormal repetitive mannerisms, Low-set ears, Bruxism OMIM:619297
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria ORPHA:48435
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Hydr... ORPHA:900
Leptospirosis
Respiratory distress, Pleural effusion, Jaundice, Cough ORPHA:509
Pearson Syndrome
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Hypomagnesemia, Lacticaciduria,... ORPHA:699
D-Bifunctional Protein Deficiency
Low-set ears, Increased circulating very long-chain fatty acid concentration, Renal cyst, Hearing... OMIM:261515
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Increased body weight ORPHA:79240
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Spina bifida, Hearing impairment ORPHA:508498
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Failure to thrive... ORPHA:79259
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Posteriorly rotated ears, Pancreatic cysts, Stage 5 chronic kidney disease,... OMIM:266920
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... ORPHA:513456
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Polyuria, Hypertension, Low-... OMIM:606721
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Congenital Disorder Of Deglycosylation 1
Respiratory distress OMIM:615273
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypospadias, Death in i... OMIM:270400
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity ... OMIM:619005
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ... OMIM:614756
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
8Q24.3 Microdeletion Syndrome
Branchial cyst, Microretrognathia, Short neck, Mesiodens, Spina bifida occulta ORPHA:508488
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Hajdu-Cheney Syndrome
Hypospadias, Patent ductus arteriosus, Renal cyst, Large earlobe, Polycystic kidney dysplasia, Lo... OMIM:102500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Patent ductus arteriosus, Senso... OMIM:616975
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Abnormal midbrain morphology, Abnorm... ORPHA:68
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Low-set ears, Abnormal... OMIM:229850
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... ORPHA:324
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Condu... OMIM:194190
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:342
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cerebrocostomandibular Syndrome
Posteriorly rotated ears, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst,... OMIM:117650
Gangliocytoma
Abnormal brainstem morphology ORPHA:251937
Familial Dysautonomia
Renal insufficiency, Acrocyanosis ORPHA:1764
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Branchiooculofacial Syndrome
Micrognathia, Short neck, Cleft of chin, Low posterior hairline, Branchial anomaly OMIM:113620
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Polyphagia, ... ORPHA:1606
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Cyanosis, Hydronephrosis, Hydroureter OMIM:212093
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Neuroleptic Malignant Syndrome
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence ORPHA:94093
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Small for gestational age, Severe failure to thrive, Micropenis... OMIM:133540
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Cryptorchidism, Hydrocele testis, Microtia, Chordee, Low-set ears, Dysp... OMIM:619522
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Cranioectodermal Dysplasia 2
Renal insufficiency, Patent ductus arteriosus, Renal cyst, Hypertension, Low-set ears, Hyperbilir... OMIM:613610
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity ORPHA:254930
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Hypergonadotropic hypogonadism, Aggressiv... OMIM:259050
Aicardi-Goutières Syndrome
Cutis marmorata, Low-set ears, Prolonged neonatal jaundice, Micropenis, Acrocyanosis ORPHA:51
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Witteveen-Kolk Syndrome
Microretrognathia, Branchial fistula, Hyperplasia of the maxilla OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hypospadias, Hearing impairment, Low-set ears, Hydronephrosis, Simple ear OMIM:180849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Renal cyst, Sensorineural hearing impairment OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Renal hypoplasia, Renal cyst, Death in childhood, Hypertension, Microtia, Still... OMIM:210710
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Branchial anomal... OMIM:164210
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Cockayne Syndrome A
Renal insufficiency, Micropenis, Failure to thrive, Proteinuria OMIM:216400
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Nephrocalcinosis, Atresi... ORPHA:79500
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hypoplasia of the brainstem ORPHA:480880
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... ORPHA:449432
Meningioma
Progressive pulmonary function impairment, Brain stem compression, Abnormality on pulmonary funct... ORPHA:2495
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... OMIM:612474
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Hypospadias, Renal cyst ORPHA:495875
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Proteus Syndrome
Testicular neoplasm, Enlarged polycystic ovaries, Macrotia, Renal cyst, Sirenomelia, Low-set ears... ORPHA:744
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Ecchymosis, Acrocyanosis, ... ORPHA:287
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Failur... ORPHA:904
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Abnormal pons morphology, Recurrent pneumonia ORPHA:99646
Coffin-Lowry Syndrome
Cutis marmorata, Sensorineural hearing impairment, Protruding ear, Acrocyanosis, Hearing impairment OMIM:303600
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Kinked brainstem OMIM:236670
Osteogenesis Imperfecta
Brain stem compression, Neonatal respiratory distress, Bruising susceptibility ORPHA:666
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Patent ductus arteriosus, Renal cyst, Anterior creases of earlobe, Duplication of re... OMIM:312870
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms, Testicular teratoma ORPHA:217253
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Abnormal repetitive mannerisms OMIM:616682
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensori... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensori... ORPHA:261537
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Otitis media, ... ORPHA:64
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Duane Retraction Syndrome 3 With Or Without Deafness
Hearing impairment OMIM:617041
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensori... ORPHA:261552
Full Nf2-Related Schwannomatosis
Brain stem compression ORPHA:637
Pmm2-Cdg
Respiratory distress, Abnormal pinna morphology, Proteinuria, Abnormal subcutaneous fat tissue di... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mafb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mafb.

No publications found that use IMPC mice or data for Mafb.

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