Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aldehyde dehydrogenase family 1, subfamily A2
Synonyms:
Raldh2,  Aldh1a7,  retinaldehyde dehydrogenase

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Aldh1a2 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 Aldh1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Aortic root aneurys... OMIM:620025

The table below shows human diseases predicted to be associated to Aldh1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Inguinal hernia, Ventricular septal defect ORPHA:1296
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Cyanosis, Abnormal... ORPHA:3426
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Transposition of the... OMIM:231060
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Webbed neck, Abnormal B cell morphology, Decreased response to growth hormone stimulation test, C... OMIM:618223
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Short neck ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Limited elbow extension and supination, Cryptorchidism, Truncus arteri... ORPHA:401935
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck, Hemivertebrae, Vertebr... OMIM:615583
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Tricuspid Atresia
Cyanosis, Persistent left superior vena cava, Coarctation of aorta, Transposition of the great ar... ORPHA:1209
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Abnormal heart morphology, Right aorti... ORPHA:95430
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis, Atrial s... OMIM:603387
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring, Kyphoscoliosis OMIM:616954
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Ethanolaminosis
Cardiomegaly OMIM:227150
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Ciliary Dyskinesia, Primary, 37
Goiter, Right aortic arch, Situs inversus totalis, Hypothyroidism, Dextrocardia OMIM:617577
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea... OMIM:602588
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... OMIM:609166
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Cystic hygroma, Arteria lusoria, Unbalanced atrioventricular ... OMIM:620294
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... OMIM:601927
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Cyanosis, Truncus a... OMIM:617478
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly,... ORPHA:1131
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... ORPHA:50815
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Natal tooth, Branchial cyst, Optic disc coloboma, Congenital hypothyroidism, Paten... OMIM:620186
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Te... OMIM:601186
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Gaucher Disease, Type Ii
Anemia, Double aortic arch, Splenomegaly, Thrombocytopenia OMIM:230900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Stankiewicz-Isidor Syndrome
Cryptorchidism, Ventricular septal defect, Truncus arteriosus, Abnormal optic disc morphology, Pi... OMIM:617516
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Cryptorchidism, Delayed eruption of primary te... OMIM:609029
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Adams-Oliver Syndrome 6
Cutis marmorata, Ventricular septal defect, Splenomegaly, Truncus arteriosus OMIM:616589
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Right aortic arch, Scimitar anomal... OMIM:608978
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persi... OMIM:620642
Acrocardiofacial Syndrome
Joint dislocation, Camptodactyly of finger, Tetralogy of Fallot, Cryptorchidism, Mitral stenosis,... ORPHA:2008
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Monosomy 22
Schwannoma, Hepatosplenomegaly, Joint swelling, Aplasia of the thymus, Short neck, Hypochromic mi... ORPHA:96123
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Abnormality of the ankle, Delayed eruption of ... ORPHA:96170
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Livedo reticular... OMIM:611788
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Lethal Congenital Contracture Syndrome 10
Stiff neck, Thoracic scoliosis, Ventricular septal defect, Hypoplasia of the thymus, Short neck, ... OMIM:617022
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormality of the pu... ORPHA:1354
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Vertebral segmentation defect ORPHA:3004
Bile Acid Malabsorption, Primary, 2
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Decre... OMIM:619481
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Digeorge Syndrome
Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Patellar dislocation, ... OMIM:188400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Sensorineural hearing impairment, Protruding ear, Camptodactyl... ORPHA:435938
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Branchiootic Syndrome
Branchial fistula, Atresia of the external auditory canal, Hearing impairment, Conductive hearing... ORPHA:52429
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Thoracic hemivertebrae, Tetralogy of Fallot, Atrioventricular canal defec... ORPHA:508498
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Reduced circulating vitamin A concentration OMIM:115300
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aortic... ORPHA:261330
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Patellar dislocation... ORPHA:567
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Bor Syndrome
Atresia of the external auditory canal, Branchial cyst, Hearing impairment, Enlarged cochlear aqu... ORPHA:107
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly... OMIM:102700
Diamond-Blackfan Anemia 9
Webbed neck, Decreased circulating vitamin D concentration OMIM:613308
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Cyanosis, Persistent left superior vena cava, Overriding aor... ORPHA:3304
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Ascending tubular aorta aneurysm, Abnormal heart morphology, Atrioventricular can... ORPHA:453499
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... OMIM:306955
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Myelomeningocele, Butt... ORPHA:2876
Aortic Arch Interruption
Abnormal heart morphology, Cyanosis, Truncus arteriosus, Ventricular septal defect, Bicuspid aort... ORPHA:2299
Fliedner-Zweier Syndrome
Ventricular septal defect, Bicuspid aortic valve, Tracheoesophageal fistula, Meningocele, Hypopla... OMIM:620511
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, S... OMIM:615415
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Branchial cyst, Abnormal heart morpholog... ORPHA:508488
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormal aortic morphology, Abnormality of the pulmonary art... ORPHA:1166
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Reduced circulating vitamin A concentration OMIM:277350
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Perching Syndrome
Scoliosis, Cyanosis OMIM:617055
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Right aortic arch, Cryptorchidism, Madelung deformity, Kyphoscoliosis,... OMIM:301111
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Conductive hear... OMIM:113650
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Optic nerve dysplasia, ... OMIM:214110
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin A concentration, Abnormal circulating vitamin E concentration ORPHA:209902
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem... ORPHA:83471
Shwachman-Diamond Syndrome
Reduced circulating vitamin A concentration, Proximal femoral epiphysiolysis, Delayed eruption of... ORPHA:811
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Adams-Oliver Syndrome 4
Umbilical hernia, Cutis marmorata, Ventricular septal defect, Atrial septal defect, Patent ductus... OMIM:615297
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Renal agenesis ORPHA:171839
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Left superior vena cava draining directly to the l... OMIM:613759
Glossopharyngeal Neuralgia
Schwannoma, Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Cranial nerve compre... ORPHA:221098
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation ... OMIM:620210
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat... OMIM:614096
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Radial head subluxation... OMIM:214800
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Hypoplasia of the thymus, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Broad neck, Joint contracture of the hand, Cardiomyopathy,... OMIM:300280
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Intellectual Developmental Disorder, Autosomal Recessive 73
Scoliosis, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Keutel Syndrome
Optic atrophy, Calcification of cartilage, Ventricular septal defect, Tracheal atresia, Pulmonary... ORPHA:85202
Maternal Uniparental Disomy Of Chromosome 4
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Decre... ORPHA:96180
Hypobetalipoproteinemia, Familial, 1
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration OMIM:615558
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... ORPHA:1937
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Tick-Borne Encephalitis
Stiff neck, Leukopenia, Leukocytosis, Abnormal cranial nerve morphology, Abnormal glossopharyngea... ORPHA:297
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis ORPHA:2762
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 circulating OMIM:115430
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Elbow dislocation, Abnormality of the spleen, Congenital muscular tor... ORPHA:2538
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect,... OMIM:180849
Congenital Toxoplasmosis
Hearing impairment, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly ORPHA:858
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Renal dysplasia ORPHA:85284
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Renal hypoplasia OMIM:620439
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Femoral-Facial Syndrome
Hypoplastic acetabulae, Absent vertebra, Camptodactyly of finger, Humeroradial synostosis, Enceph... OMIM:134780
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Abnormal pulmonary valve morphology, E... ORPHA:2162
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat... ORPHA:1923
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus, Macrotia OMIM:300886
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth OMIM:215045
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Knee flexion contracture, Short neck, Cyanotic episode, Thickened nuch... ORPHA:284417
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Isolated Klippel-Feil Syndrome
Webbed neck, Abnormal cranial nerve morphology, Congenital muscular torticollis, Cervical C2/C3 v... ORPHA:2345
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Abnormal form of the vertebral bodies, Carpal osteolysis, Pterygium, Sc... ORPHA:371428
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ad... ORPHA:861
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Cyanosi... ORPHA:2257
Bilateral Polymicrogyria
Central hypothyroidism, 4-layered lissencephaly, Facial diplegia, Abnormal glossopharyngeal nerve... ORPHA:268940
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism, Umbilical hernia ORPHA:1918
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Cystic hygroma, Optic nerve hypoplasia, Supernumerary nipple, Abnorm... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Cystic hygroma, Optic nerve hypoplasia, Supernumerary nipple, Abnorm... ORPHA:352665
Abetalipoproteinemia
Reduced circulating vitamin A concentration, Cardiomegaly, Talipes equinovarus, Decreased circula... ORPHA:14
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Proteus-Like Syndrome
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, S... ORPHA:2969
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Scoliosis, Patent... OMIM:616276
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Neurooculocardiogenitourinary Syndrome
Low-set ears, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Redundant neck skin,... OMIM:618652
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Metaphyseal irregularity OMIM:269920
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Polymicrogyria, Abnormal heart morphology, Increased nuchal translucency, Cryptorchidism, Patent ... OMIM:618494
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Webbed neck, Abnormal helix morphology, Toe syndactyly, Branchial fistula, Camptoda... ORPHA:261337
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Li-Campeau Syndrome
Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hypothyroid... OMIM:619189
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia, Syndactyly OMIM:613576
Alg3-Cdg
Abnormality of the endocrine system, Cardiomyopathy, Neural tube defect, Coarctation of the desce... ORPHA:79321
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neuralgic Amyotrophy
Acrocyanosis, Redundant neck skin ORPHA:2901
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Lo... OMIM:179613
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal d... ORPHA:290
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc... ORPHA:1600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Cryptorchidism, Ventricular septal... ORPHA:353281
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Decre... ORPHA:309031
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Phace Association
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Lingual thyroid, Ventricular septal ... OMIM:606519
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Foam cells ORPHA:747
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Progeroid facial appearance, Umbilical he... OMIM:613177
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splen... OMIM:612541
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Lymphopenia, Abnormal heart morphology... ORPHA:84064
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Coarctation of aor... OMIM:612474
Tetrasomy 15Q26
Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Congenital Heart Block
Endocardial fibroelastosis, Cyanosis, Patent foramen ovale, Pericardial effusion, Patent ductus a... ORPHA:60041
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Cach Syndrome
Renal hypoplasia ORPHA:135
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Aplastic anemia, Hypogonadism, Ventricular septal defect, Short ne... OMIM:300514
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Knee osteoa... OMIM:619656
De Barsy Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Prominent veins on trunk, Umbilical hernia... ORPHA:2962
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Hypercholanemia, Familial, 2
Decreased circulating vitamin D concentration OMIM:619256
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Flared metaphysis, Low serum calcitriol, Decreased circulating calcifediol c... OMIM:619073
Noonan Syndrome 9
Webbed neck, Cryptorchidism, Ventricular septal defect, Short neck, Coarctation of aorta, Pulmoni... OMIM:616559
Formiminoglutamic Aciduria
Increased blood folate concentration, Atrial septal defect, Abnormality of folate metabolism ORPHA:51208
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Renal dysplasia ORPHA:85321
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Subglottic s... OMIM:619657
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux OMIM:619955
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
CantĂș Syndrome
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... ORPHA:1517
Isolated Atp Synthase Deficiency
Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Esophageal Atresia
Abnormal vertebral morphology, Tetralogy of Fallot, Subglottic stenosis, Cyanosis, Ventricular se... ORPHA:1199
Double Outlet Left Ventricle
Cryptorchidism, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bic... ORPHA:3427
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Tumoral Calcinosis, Normophosphatemic, Familial
Abnormality of vitamin D metabolism OMIM:610455
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Breath-Holding Spells
Cyanosis OMIM:607578
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux OMIM:609053
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Broad neck, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic... OMIM:617506
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Holt-Oram Syndrome
Hypoplastic left heart, Kyphosis, Atrioventricular canal defect, Abnormal aortic morphology, Vent... ORPHA:392
Catel-Manzke Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... OMIM:610655
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Liver Disease, Severe Congenital
Reduced circulating vitamin A concentration, Umbilical hernia, Recurrent otitis media, Dilatation... OMIM:619991
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... OMIM:606003
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, V... OMIM:618316
Contractural Arachnodactyly, Congenital
Congenital kyphoscoliosis, Aortic root aneurysm, Elbow flexion contracture, Limited elbow extensi... OMIM:121050
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormality of the spleen, Tracheal stenosis, Abnormal low... ORPHA:93941
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent crus of helix,... ORPHA:261311
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Prominent fingertip pads, Hearing impairment, Branchial anomaly, Brachydacty... ORPHA:466950
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Genu valgu... OMIM:201000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Coarctation of aorta, Pat... OMIM:617088
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Webbed neck, Flared metaphysis, Large fleshy ears, Hypertrophic cardiomyopathy, Dec... OMIM:616897
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Abnormal heart morphology, Polymicrogyria, Cryptorchidism, Patent foramen ovale... ORPHA:500159
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Preductal coarctation o... ORPHA:141127
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, T... ORPHA:210122
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Genu valgum, Butterfly vertebrae, Limited elbow extension, Increased nuchal tr... OMIM:618870
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Decreased size of nerve terminals, Thoracic kyphoscoliosis, Facial palsy, Scoliosis ORPHA:98913
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Nemaline Myopathy 9
Scoliosis, Ventricular septal defect OMIM:615731
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Distal Triplication 15Q
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Craniosynostosis, Hypo... ORPHA:314588
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Inguinal hernia, Splenomegaly, Sensorineural hearing imp... OMIM:256550
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Recurrent joint dislocat... OMIM:619472
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Optic disc coloboma, Polymicrogyria, Periventricular hetero... OMIM:615948
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism,... ORPHA:2059
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... OMIM:620067
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Cryptorchidism, Patent foramen ova... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Cryptorchidism, Patent foramen ova... ORPHA:353277
Noonan Syndrome 10
Webbed neck, Hypertrophic cardiomyopathy, Increased nuchal translucency, Cryptorchidism, Mitral v... OMIM:616564
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Conotruncal defect, Persiste... ORPHA:2306
Verloove Vanhorick-Brubakk Syndrome
Abnormality of the parathyroid gland, Tarsal synostosis, Abnormal form of the vertebral bodies, C... ORPHA:3429
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Pericardial effusion OMIM:614702
Primary Sclerosing Cholangitis
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Decre... ORPHA:171
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Splenomegaly, Chylopericardium ORPHA:2414
Mulibrey Nanism
Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial... OMIM:253250
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Anterior pit... OMIM:619534
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Scoliosis OMIM:301039
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pachygyria, Pineal cyst, Right aortic arch, Ventricular septal defect ORPHA:513456
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Camptodactyly of finger, Prominent metopic ridge OMIM:616920
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... OMIM:249270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thr... ORPHA:49827
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Optic atrophy, Tetralogy of Fallot, Atrioventricul... ORPHA:7
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of ... OMIM:243150
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Developmental And Epileptic Encephalopathy 95
Macroglossia, Short distal phalanx of finger, Short fourth metatarsal, Hearing impairment, Umbili... OMIM:618143
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... OMIM:601596
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Atrial septal defect, Ventricular septal defect OMIM:608227
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Wormian bones, Coarctation of aor... OMIM:617159
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Wiskott-Aldrich Syndrome
Vasculitis, Abnormal eosinophil morphology, Acute leukemia, Bruising susceptibility, Spontaneous ... ORPHA:906
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale, Ventricular... ORPHA:477817
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Hip dislocation, Double outlet right ven... ORPHA:1596
Congenital Fibrinogen Deficiency
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... ORPHA:335
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce... ORPHA:268882
Imerslund-Grasbeck Syndrome 1
Abnormal blood folate concentration, Decreased circulating vitamin B12 concentration, Malabsorpti... OMIM:261100
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Limited neck range of motion, Short n... OMIM:214300
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Aortic root aneurysm, Natal tooth, Ventricular septal defect, Sagittal ... OMIM:145420
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Polymicrogyria, Periventricu... OMIM:617201
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
King-Denborough Syndrome
Webbed neck, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Vent... OMIM:619542
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Reduced circulating vitamin A concentration, Decreased circulating vitamin K concen... ORPHA:731
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Palmoplantar... OMIM:615355
Craniofacial Microsomia 1
Block vertebrae, Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Branchial anomaly, Ri... OMIM:164210
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi... ORPHA:1461
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Leukopenia, Butterfly vertebrae, Cryptorchidism, Redundant neck skin, V... OMIM:301056
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Ectodermal dysplasia, Abnormal natural killer cell count OMIM:612782
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Optic nerve hypoplasia, Punctate vertebral cal... ORPHA:79345
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Cyanosis ORPHA:391428
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Orofaciodigital Syndrome Type 14
Webbed neck, Bilateral cryptorchidism, Periventricular heterotopia, Aplasia of the epiglottis, Ve... ORPHA:434179
Lateral Meningocele Syndrome
Umbilical hernia, Cryptorchidism, Biconcave vertebral bodies, Ventricular septal defect, Wormian ... OMIM:130720
Desbuquois Syndrome
Genu recurvatum, Elbow dislocation, Camptodactyly of finger, Ventricular septal defect, Radioulna... ORPHA:1425
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Ritscher-Schinzel Syndrome 2
Broad neck, Pulmonary artery hypoplasia, Camptodactyly of finger, Cryptorchidism, Ventricular sep... OMIM:300963
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone stimulation test, Ventricu... OMIM:618624
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Larsen Syndrome
Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Accessory... OMIM:150250
Asbestos Intoxication
Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Mediastinal lymphadenopathy, Hypoxemia,... ORPHA:2302
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Pseudotrisomy 13 Syndrome
Polymicrogyria, Cryptorchidism, Encephalocele, Ventricular septal defect, Complete atrioventricul... OMIM:264480
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Periventricular heterotopia, Patent ductus arteriosus, Ventricular septal d... OMIM:618974
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle... ORPHA:252164
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Premature skin wrinkling, Dilatatio... ORPHA:363705
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Natal tooth, Cardiomyopathy, Intrauterine growth retardation, Cardiome... ORPHA:158687
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Sensorineural hearing impairment, Cardiomegaly, Short fourt... OMIM:266500
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Bicuspid aorti... ORPHA:329224
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy OMIM:252920
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Hearing impairment ORPHA:3137
Alkaptonuria
Aortic valve calcification, Intervertebral disk degeneration, Arthropathy, Aortic aneurysm, Mitra... OMIM:203500
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... OMIM:601005
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Neonatal death, Frontal polym... OMIM:620024
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Polymicrogyria, Ventricular septal defect, Bicuspid aortic valve, Scoliosis, Pa... OMIM:617751
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesi... ORPHA:2255
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Low-set ears, Genu valgum, Congenital diaphragmatic hernia, Mitral valve pro... OMIM:245600
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida, Gray matter heterotopia OMIM:207950
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Talipes valgus, Decreased nerve conduction velocity, Ventricular septal def... OMIM:616652
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal cerebral vascular morphology, Arterial stenosis, Tracheal stenosis, ... ORPHA:2637
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Optic atrophy, Absence of the pulmonary valve, Umbilical hernia, Decreased... OMIM:601808
Dravet Syndrome
Limited neck range of motion, Limited knee extension, Cyanotic episode ORPHA:33069
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Splenomegaly, Petechiae, Hypothyroidism, Thrombocytopenia, ... OMIM:225750
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Sclerotic vertebral en... ORPHA:2905
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis, Cardiomegaly, Shor... OMIM:613320
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced circulating vitamin A concentration, Decreased circulating vitamin D concentration OMIM:613658
Ogden Syndrome
Delayed cranial suture closure, Cryptorchidism, Ventricular septal defect, Pulmonary artery steno... ORPHA:276432
Pseudopseudohypoparathyroidism
Short neck, Delayed eruption of teeth, Pseudohypoparathyroidism OMIM:612463
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Prune Belly Syndrome
Congenital hip dislocation, Tetralogy of Fallot, Decreased testicular size, Cryptorchidism, Verte... ORPHA:2970
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Polymicrogyria, Cryptorchidism, Ventricul... OMIM:244300
Trisomy 13
Optic atrophy, Kyphosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Cystic ... ORPHA:3378
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Lymphadenopathy, Arthritis, Acrocyanosis, Purpura, Urticaria ORPHA:343
Tarp Syndrome
Optic atrophy, Extramedullary hematopoiesis, Tetralogy of Fallot, Cryptorchidism, Cyanosis, Persi... ORPHA:2886
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Premature osteoarthri... ORPHA:93352
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Abnormal thumb morphology, Mitral valve ... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Intrauterine growth retardation, Myopathy, Sensorineural hearing impairment, Card... OMIM:617713
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal de... OMIM:615279
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, C... OMIM:620609
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Te... OMIM:618280
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Pelvic kidney, Microphallus OMIM:603467
Noonan Syndrome 2
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... OMIM:605275
Woods Syndrome
Optic atrophy, Limited elbow extension, Ventricular septal defect, Supernumerary nipple OMIM:615236
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Cryptorchidism, Ventricular septa... OMIM:612938
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Maxillonasal Dysplasia
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Decreased... ORPHA:1248
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly ORPHA:42
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Cutis marmorata, Cryptorchidism, Ventricular septal defect, Coarctation of ... OMIM:617602
Jung Syndrome
Low posterior hairline, Tracheal stenosis, Hypothyroidism, Abnormal form of the vertebral bodies ORPHA:2321
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... ORPHA:3097
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Talipes valgus, Ventricular septal defect, Sagittal craniosynostosis, Patellar ... OMIM:615879
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Hearing impairment OMIM:618838
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Adrenal calcification, Pancreati... ORPHA:51608
Craniofacioskeletal Syndrome
Interrupted aortic arch, Tracheal stenosis, Absent gallbladder, Cryptorchidism, Ventricular septa... OMIM:300712
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Cryptorchidism, Vert... ORPHA:52
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus... ORPHA:555874
Eiken Syndrome
Broad femoral neck, Clinodactyly, Eruption failure, Decreased circulating vitamin D concentration... OMIM:600002
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Aortic root aneurys... OMIM:620025
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Intervertebral disk degeneration, Knee osteoarthritis, Dilatation of t... ORPHA:284984
Recombinant 8 Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Patellar aplasia, Abnormality of the neck, Cryptorc... ORPHA:96167
Multiple Endocrine Neoplasia Type 4
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma OMIM:612918
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Short thumb, Hearing impairment, Atresia of the external auditory ... OMIM:612562
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormality of vitamin metabolism, Decreased circulating vitamin D concentr... ORPHA:90362
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Dysosteosclerosis
Platyspondyly, Optic atrophy, Delayed eruption of teeth, Abnormal cranial nerve morphology, Ventr... ORPHA:1782
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Subperiosteal bone resorption, Delayed eruption of teeth, Fibular bowing, Femoral bowing, Tibial ... OMIM:264700
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Increased nuchal translucency, Cryptorchidism, Ventricular septal defect, S... OMIM:617635
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Abnormal heart morphology, Cyanosis, Pulmonary arterioveno... ORPHA:268943
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Broad neck, Optic disc coloboma, Bilateral cryptorchidism, Ventricular septal defect, Short neck,... OMIM:300472
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Abnormal lower limb bone morphology, Metaphyseal widening,... ORPHA:2788
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, P... ORPHA:2745
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cystic hygroma, Aortic valve stenosis, Hypoplastic left heart, Optic atrophy, Pulmonary artery at... OMIM:618164
Vitamin D-Dependent Rickets, Type 2A
Subperiosteal bone resorption, Delayed eruption of teeth, Hearing impairment, Fibular bowing, Fem... OMIM:277440
8Q12 Microduplication Syndrome
Abnormal cranial nerve morphology, Atrial septal defect, Ventricular septal defect ORPHA:228399
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Myopathy With Extrapyramidal Signs
Optic atrophy, Leukocytosis, Splenomegaly, Ventricular septal defect, Peripheral axonal neuropath... OMIM:615673