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.

No human diseases associated to this gene by orthology or annotation.

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
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Lambert Syndrome
Inguinal hernia, Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Abnormality of cartilage of external ear, Double outlet right vent... ORPHA:3426
Velocardiofacial Syndrome
Tetralogy of Fallot, Cryptorchidism, Hypoparathyroidism, Pulmonary artery atresia, Ventricular se... OMIM:192430
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Tricuspid Atresia
Cyanosis, Coarctation of aorta, Pulmonary artery atresia, Transposition of the great arteries, Pe... ORPHA:1209
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Short neck, Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Knee flexion contracture, Vascular ring, Pach... OMIM:603387
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Dislocated radial head, Abnormal heart morphology, Limited ... ORPHA:401935
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Congenital Tracheomalacia
Cyanosis, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Trac... ORPHA:95430
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Stillbirth, Truncus arteriosus OMIM:274210
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter OMIM:617577
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Ethanolaminosis
Cardiomegaly OMIM:227150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspi... OMIM:616749
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Tracheal atresia OMIM:601612
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Branchiogenic-Deafness Syndrome
Branchial cyst, Sensorineural hearing impairment, Atresia of the external auditory canal, Short d... OMIM:609166
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Webbed neck, Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cyanosis, Abnormal aortic arch morphology, Maternal diabetes... ORPHA:860
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Patent ductus arteriosus, Right aortic arch, Ventricular septal de... OMIM:147770
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Emanuel Syndrome
Kyphosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Congenital hip dislocat... OMIM:609029
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Thoracic scoliosis, Short neck, Ventricular septal defect, Torticollis, Cardiom... OMIM:617022
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal mitral val... ORPHA:1131
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, A... ORPHA:99050
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Cryptorc... OMIM:601186
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Neonatal d... OMIM:608978
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasia, Dou... ORPHA:2326
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Acrocardiofacial Syndrome
Tetralogy of Fallot, Atrial septal defect, Cryptorchidism, Hyperthyroidism, Joint dislocation, Co... ORPHA:2008
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Monosomy 22
Hepatosplenomegaly, Short neck, Schwannoma, Aplasia of the thymus, Joint swelling, Hypochromic mi... ORPHA:96123
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Asplenia, Truncus arterio... OMIM:615415
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Emanuel Syndrome
Delayed eruption of teeth, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Congen... ORPHA:96170
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D OMIM:619481
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Urethral obstruction, Renal dysplasia, Hypertrophy of the urinary bladder OMIM:601389
Adams-Oliver Syndrome 4
Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbil... OMIM:615297
Stankiewicz-Isidor Syndrome
Pineal cyst, Patent ductus arteriosus, Cryptorchidism, Abnormality of the optic disc, Ventricular... OMIM:617516
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Adams-Oliver Syndrome 6
Cutis marmorata, Ventricular septal defect, Truncus arteriosus OMIM:616589
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Cutis marmorata, Patent ductus arteriosus, Aortic root ... ORPHA:229
Digeorge Syndrome
Hypothyroidism, Ovarian cyst, Anemia, Scoliosis, Patellar dislocation, Ventricular septal defect,... OMIM:188400
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Tetralogy of Fallot, Thoracic scoliosis, Short neck, Thoracic kyphosis, Atr... ORPHA:508498
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Absence Of The Pulmonary Artery
Cyanosis, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defe... ORPHA:980
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Sensorineural hearing impairment, Tapered finger, Protruding e... ORPHA:435938
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory... ORPHA:52429
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Craniosynostosis, Atrial septal defect, Coarctation of aorta, Ventricular se... ORPHA:261243
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
22Q11.2 Deletion Syndrome
Hypothyroidism, Tricuspid atresia, Cryptorchidism, Abnormal aortic valve morphology, Spina bifida... ORPHA:567
Diamond-Blackfan Anemia 9
Webbed neck, Low levels of vitamin D OMIM:613308
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Hyperlordosis, Aortic aneurysm, Branchial fistula, Ventricular septal defec... ORPHA:261330
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Bor Syndrome
Branchial cyst, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ear ... ORPHA:107
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Absent gallbladder, Patent foramen ovale, Patent ductus arteriosus, Double o... OMIM:600001
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Ventricular septal defe... ORPHA:1166
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:3304
Phaver Syndrome
Myelomeningocele, Pterygium, Abnormal form of the vertebral bodies, Coarctation of aorta, Radioul... ORPHA:2876
Rare Circulatory System Disease
Cyanosis, Thoracic kyphosis, Elbow flexion contracture, Enlargement of the wrists, Abnormal vascu... ORPHA:98028
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Optic nerve dysplasia, Jaundice, Stippled chondral calcification, Abnormal heart ... OMIM:214110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vertebral segmentation defect, Hypothyroidism, Craniosynostosis, Cystic hygroma, Prominent metopi... ORPHA:453499
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Shwachman-Diamond Syndrome
Low levels of vitamin A, Metaphyseal irregularity, Delayed eruption of teeth, Abnormality of fing... ORPHA:811
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, I... OMIM:618654
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormality of vitamin A metabolism, Abnormality of vitamin E metabolism ORPHA:209902
Aortic Arch Interruption
Cyanosis, Aortic valve atresia, Patent ductus arteriosus, Aortopulmonary window, Double outlet ri... ORPHA:2299
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Aplasia/Hypopl... ORPHA:1727
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia OMIM:618494
Branchiootorenal Syndrome 1
Branchial cyst, Cupped ear, Incomplete partition of the cochlea type II, Conductive hearing impai... OMIM:113650
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Hypospadias, Micropenis ORPHA:171839
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Hip osteoarthritis, Thoracic aortic aneurysm, Intervertebral disc dege... OMIM:619656
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic... ORPHA:3400
Catel-Manzke Syndrome
Overriding aorta, Short neck, Cystic hygroma, Cryptorchidism, Joint dislocation, Dextrocardia, Co... OMIM:616145
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Erythroi... OMIM:612541
Diabetic Embryopathy
Tetralogy of Fallot, Cryptorchidism, Spinal dysraphism, Abnormality of the pulmonary artery, Vent... ORPHA:1926
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder OMIM:617666
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Low levels of vitamin E, Low levels of vitamin K, Low levels of... ORPHA:96180
Eng-Strom Syndrome
Scoliosis, Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum... ORPHA:1937
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vascular dilatation, Abnormal glossopharyngeal nerve morph... ORPHA:221098
Charge Syndrome
Hypothyroidism, Radial head subluxation, Cryptorchidism, Dysplastic tricuspid valve, Double outle... OMIM:214800
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Cantu Syndrome
Congenital hypertrophy of left ventricle, Coxa valga, Short neck, Patent ductus arteriosus, Broad... OMIM:239850
Intellectual Developmental Disorder, Autosomal Recessive 73
Scoliosis, Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Keutel Syndrome
Ventricular septal defect, Tracheal atresia, Pulmonary artery stenosis, Calcification of cartilag... ORPHA:85202
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Antecubital pterygium, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Type I truncus arteriosus, Aganglionic ... OMIM:156810
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Tick-Borne Encephalitis
Abnormal myocardium morphology, Leukopenia, Leukocytosis, Abnormal cranial nerve morphology, Poly... ORPHA:297
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland ORPHA:2762
Bresek Syndrome
Renal hypoplasia, Renal dysplasia, Hypoplasia of the bladder, Vesicoureteral reflux ORPHA:85284
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux OMIM:616854
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Isolated Klippel-Feil Syndrome
Webbed neck, Cervical C2/C3 vertebral fusion, Short neck, Abnormal cranial nerve morphology, Spin... ORPHA:2345
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Hydrocephalus OMIM:300886
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland, Tracheoesophageal fistula, Coarctation of aorta... ORPHA:1923
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Holoprosencephaly
Abnormal pulmonary valve morphology, Brachydactyly, Tetralogy of Fallot, Short neck, Hand polydac... ORPHA:2162
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Hydrocephalus, Cardiomegaly, Hearing impairment ORPHA:858
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Arrhinencephaly, Atrial septal defect, Tracheoesophageal fistula, Elb... ORPHA:2538
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Abnormal form of the vertebral bodies, Polycystic ovaries, Arthritis, Atrial septal de... ORPHA:371428
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left vent... OMIM:617713
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Jaundice, Anemia, Abnormality of th... ORPHA:290
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tor... OMIM:249670
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia, Ventricular septal defect ORPHA:1918
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Crypto... OMIM:618316
Treacher-Collins Syndrome
Multiple enchondromatosis, Patent ductus arteriosus, Cryptorchidism, Tracheoesophageal fistula, B... ORPHA:861
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Abetalipoproteinemia
Low levels of vitamin A, Low levels of vitamin D, Cardiomegaly, Talipes equinovarus, Low levels o... ORPHA:14
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vertebral segmentation defect, Hypothyroidism, Craniosynostosis, Lambdoidal craniosynostosis, Cys... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vertebral segmentation defect, Hypothyroidism, Craniosynostosis, Lambdoidal craniosynostosis, Cys... ORPHA:352665
Bilateral Polymicrogyria
Central hypothyroidism, Perisylvian polymicrogyria, Facial diplegia, 4-layered lissencephaly, Abn... ORPHA:268940
Formiminoglutamic Aciduria
Atrial septal defect, Increased blood folate concentration, Abnormality of folate metabolism ORPHA:51208
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Optic atrophy OMIM:614947
Aorta Coarctation
Tetralogy of Fallot, Patent ductus arteriosus, Coronary artery atherosclerosis, Hypoplastic aorti... ORPHA:1457
Phace Association
Patent ductus arteriosus, Optic atrophy, Optic nerve hypoplasia, Coarctation of aorta, Congenital... OMIM:606519
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin K, Low levels of vitamin D ORPHA:309031
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Short neck, Cyanotic episode, Ankle flexion contracture, Knee flexion contractu... ORPHA:284417
Alg3-Cdg
Neural tube defect, Coarctation of the descending aortic arch, Abnormality of the endocrine syste... ORPHA:79321
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Mitral valve calcificati... OMIM:203500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia, Syndactyly OMIM:613576
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Double outle... OMIM:179613
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Proteus-Like Syndrome
Subcutaneous lipoma, Polycystic ovaries, Splenomegaly, Abnormality of the parathyroid gland, Veno... ORPHA:2969
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Toe syndactyly, Webbed neck, Abnormal helix morphology, Low-set ears, Patent ductu... ORPHA:261337
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly OMIM:269920
Li-Campeau Syndrome
Hypothyroidism, Patent foramen ovale, Patent ductus arteriosus, Patellar hypoplasia, Atrial septa... OMIM:619189
Syndromic Diarrhea
Tetralogy of Fallot, Hypothyroidism, Patent ductus arteriosus, Atrial septal defect, Thrombocytos... ORPHA:84064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Fanconi Anemia, Complementation Group B
Short neck, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal vertebral morphology, C... OMIM:300514
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Low serum calcitriol, Metaphyseal cupping, Flared metaphysis, Dec... OMIM:619073
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Abnormal cricoid cartilage morphology, Th... ORPHA:508488
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Multiple glomerular cysts, Decreased numbers o... OMIM:137920
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Adre... OMIM:220210
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Apnea, Central Sleep
Cyanosis OMIM:207720
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Scoliosis, Ventricular septal defect ORPHA:1388
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Patellar hypoplasia, Dextrocardia, Secundum atrial septal defect, Abnormal p... ORPHA:2257
Holt-Oram Syndrome
Kyphosis, Patent ductus arteriosus, Atrial septal defect, Radioulnar synostosis, Hypoplastic left... ORPHA:392
Atrial Standstill
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy,... ORPHA:1344
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Low-set ears, Patent ductus arteriosus, Atrial septal defect, Sensorineural... OMIM:618652
Cantú Syndrome
Abnormal heart valve morphology, Coxa valga, Patent ductus arteriosus, Finger syndactyly, Short n... ORPHA:1517
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis OMIM:601127
Noonan Syndrome 9
Webbed neck, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, Ventricular sep... OMIM:616559
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Transaldolase Deficiency
Pancytopenia, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hepatosplenomegaly, Atr... OMIM:606003
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic st... ORPHA:353281
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology OMIM:609053
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Abnormal erythrocyte morphology ORPHA:71277
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Monosomy 18Q
Pulmonary valve defects, Hypothyroidism, Patent ductus arteriosus, Aortic aneurysm, Secondary gro... ORPHA:1600
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary artery stenosis OMIM:614432
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Tracheoe... ORPHA:210122
Carpenter Syndrome 1
Genu varum, Cryptorchidism, Scoliosis, Ventricular septal defect, Lateral displacement of patella... OMIM:201000
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Cach Syndrome
Renal hypoplasia ORPHA:135
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Ventri... OMIM:601005
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
De Barsy Syndrome
Wormian bones, Delayed eruption of teeth, Patent ductus arteriosus, Delayed closure of the anteri... ORPHA:2962
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Noonan Syndrome 10
Webbed neck, Short neck, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Palmopla... OMIM:616564
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Hepatomegaly, Neona... OMIM:619167
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux ORPHA:2470
Contractural Arachnodactyly, Congenital
Short neck, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Congenital kyph... OMIM:121050
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Abnormal heart morphology, Scolio... ORPHA:500159
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Foam cells, Hypoxemia ORPHA:747
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Bile duct proliferation, Dextrocardia, Ventricular septal defect, Inlet ventr... OMIM:619534
Danon Disease
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... OMIM:300257
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pe... OMIM:618870
Esophageal Atresia
Cyanosis, Tetralogy of Fallot, Tracheoesophageal fistula, Subglottic stenosis, Abnormal vertebral... ORPHA:1199
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Hepatome... OMIM:212140
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Scoliosis, Ventricular septal def... OMIM:300963
8P23.1 Duplication Syndrome
Adrenal insufficiency, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Femoral-Facial Syndrome
Absent vertebra, Cryptorchidism, Hypoplastic acetabulae, Pulmonic stenosis, Radioulnar synostosis... OMIM:134780
3C Syndrome
Tetralogy of Fallot, Short neck, Abnormal tricuspid valve morphology, Kyphosis, Optic atrophy, At... ORPHA:7
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Congenital Tracheal Stenosis
Cyanosis, Preductal coarctation of the aorta, Patent ductus arteriosus, Tracheoesophageal fistula... ORPHA:141127
Noonan Syndrome 2
Short neck, Leukemia, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Palmoplanta... OMIM:605275
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormal form of the vertebral bodies, Abnormality of the parathyroid gland, Tars... ORPHA:3429
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Prominent crus of helix, Abnormal cardiac ventricle morphology, Hypoplastic... ORPHA:261311
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B lymphocytopenia,... OMIM:603554
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Thoracic kyphoscoliosis, Decreased size of nerve terminals, Scoliosis, Facial palsy ORPHA:98913
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Anemia, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Prominent metopic ridge, Interrupted aortic arch, Ventricular septal defect OMIM:616920
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Short neck, Cryptorchidism, Aganglionic meg... ORPHA:2059
Primary Sclerosing Cholangitis
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin K, Low levels of vitamin D ORPHA:171
Neuraminidase Deficiency
Skeletal muscle atrophy, Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Inguinal h... OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Webbed neck, Flexion contracture, Intrauterine growth retardation, Low-set ears... OMIM:616897
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Prominent antihelix, Short palm, Posteriorly rotated ears, Branchial anomaly, Prom... ORPHA:466950
Viss Syndrome
Hypothyroidism, Carotid artery tortuosity, Double outlet right ventricle, Scoliosis, Ventricular ... OMIM:619472
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Pineal cyst, Ventricular septal defect, Pachygyria ORPHA:513456
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Craniosynostosis, Short neck, Patent foramen ovale, Patent ductus arteriosus, Aortic... OMIM:617506
Rubinstein-Taybi Syndrome 1
Leukemia, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Premature thelarche, Di... OMIM:180849
Cholesterol Pneumonia
Cyanosis OMIM:215030
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Distal Tetrasomy 15Q
Craniosynostosis, Kyphosis, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morpho... ORPHA:314588
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Limited neck range of motion, Scoliosis, Ventricular... OMIM:214300
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Hepatomegaly, Cardiomegaly, Myocardial... OMIM:253250
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Persistent left su... ORPHA:2306
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Occipital encephalocele, Atrial septal defect, Cryptorchidism, Perivent... OMIM:615948
Filippi Syndrome
Cryptorchidism, Ventricular septal defect, Optic atrophy OMIM:272440
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Decr... ORPHA:477817
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:600987
12Q14 Microdeletion Syndrome
Renal hypoplasia, Ectopic kidney, Horseshoe kidney ORPHA:94063
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Abnormal su... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Abnormal su... ORPHA:353277
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Scoliosis, Ventricular septal defect OMIM:608227
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Abnormal heart morphology, Bic... ORPHA:284169
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Wormian bones, Atrial septal defect, Cryptorchidism, Coarctation of aorta, V... OMIM:617159
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system ph... OMIM:252320
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Desbuquois Syndrome
Short neck, Elbow dislocation, Radioulnar synostosis, Scoliosis, Patellar dislocation, Genu recur... ORPHA:1425
Autosomal Recessive Polycystic Kidney Disease
Low levels of vitamin A, Low-set ears, Low levels of vitamin D, Low levels of vitamin K, Low leve... ORPHA:731
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Cryptorchidism, ... OMIM:264480
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Noonan Syndrome 8
Webbed neck, Short neck, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Palmopla... OMIM:615355
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Developmental And Epileptic Encephalopathy 95
Brachydactyly, Multiple joint contractures, Cystic hygroma, Short 4th metacarpal, Clinodactyly of... OMIM:618143
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Aneurysm-Osteoarthritis Syndrome
Protrusio acetabuli, Scoliosis, Left ventricular hypertrophy, Bruising susceptibility, Patent duc... ORPHA:284984
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Split hand, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Bullet-shap... OMIM:252500
Larsen Syndrome
Cervical kyphosis, Multiple carpal ossification centers, Atrial septal defect, Cryptorchidism, Di... OMIM:150250
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia OMIM:614083
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Jaundice OMIM:614876
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Craniofacial Microsomia
Tetralogy of Fallot, Block vertebrae, Vertebral hypoplasia, Patent ductus arteriosus, Occipital e... OMIM:164210
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular hypertrophy OMIM:619051
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Scoliosis, Pulmonary valve atresia, Ventricular septal defect, Pulmonary ar... OMIM:301030
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Cryptorchidism, Scoliosis, Ventricular septal defect OMIM:301039
Refsum Disease, Classic
Sensorineural hearing impairment, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Short fourt... OMIM:266500
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Aganglionic megacolon, Abnormal autonomic nervous... OMIM:613870
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Microphallus, Vesicoureteral reflux OMIM:618454
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosi... ORPHA:1461
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
King-Denborough Syndrome
Webbed neck, Thoracic kyphosis, Short neck, Cryptorchidism, Lumbar hyperlordosis, Scoliosis, Vent... OMIM:619542
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Periventricular heterotopia, Ventricular septal defect, Patent ductus arter... OMIM:618974
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistula, Renal duplication, Ren... ORPHA:322
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Splenomegaly, Pulmonic stenosis, Cyanosis ORPHA:2414
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Cyanosis, Bruising susceptibility, Splenic rupture, Right ventricular h... ORPHA:335
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Craniosynostosis, Leukopenia, Cryptorchidism, Optic nerve hypoplasia, Double... OMIM:301056
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Ventricular septal defect OMIM:616901
Coffin-Siris Syndrome 10
Persistence of primary teeth, Ventricular septal defect OMIM:618506
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Trisomy 13
Kyphosis, Cystic hygroma, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Scolios... ORPHA:3378
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Venous varicosities of celiac and mesenteric vessels, Cerebral arteriovenous malformati... OMIM:610655
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Prominent superficial veins, Atrial se... ORPHA:363705
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Short neck, Patent ductus arteriosus, Dysplastic aortic valve, At... OMIM:601808
Ogden Syndrome
Cryptorchidism, Scoliosis, Ventricular septal defect, Pulmonary artery stenosis, Delayed cranial ... ORPHA:276432
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Low-set ears, Microtia, Metaphyseal cupping, Micromelia, Cardiomegaly OMIM:613320
Kapur-Toriello Syndrome
Short neck, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Scoliosis, Pachygyria... OMIM:244300
Congenital Heart Defects And Skeletal Malformations Syndrome
Cutis marmorata, Atrial septal defect, Cryptorchidism, Coarctation of aorta, Scoliosis, Ventricul... OMIM:617602
Brachytelephalangic Chondrodysplasia Punctata
Coronal cleft vertebrae, Cervical kyphosis, Vertebral hypoplasia, Cervical vertebral dysplasia, P... ORPHA:79345
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Ventricular hypertrophy, Ventricular septal ... OMIM:115197
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Hearing impairment ORPHA:3137
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Coarctation of aorta, Pulmonic stenosis, Abnorm... ORPHA:3092
Duane-Radial Ray Syndrome
Renal agenesis, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Hydronephrosis,... OMIM:607323
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Aortic root aneurysm, Atrial septal defect, Natal tooth, Ventricular se... OMIM:145420
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Scoliosis, ... ORPHA:329224
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Bruising susceptibility, Petechiae, Spontaneous hematomas, P... ORPHA:906
Distal Monosomy 15Q
Abnormal aortic arch morphology, Cystic hygroma, Patent ductus arteriosus, Cryptorchidism, Double... ORPHA:1596
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect, Optic ... OMIM:613457
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Micropenis OMIM:616541
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Scoliosis, Ventricular septal defect, Transposition of... ORPHA:1913
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies, Tracheoesophageal ... ORPHA:93941
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Noonan Syndrome 12
Tetralogy of Fallot, Thrombocytopenia, Ventricular septal defect, Decreased response to growth ho... OMIM:618624
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy, Optic atrophy ORPHA:391428
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Hearing impairment OMIM:252920
Loeys-Dietz Syndrome 3
Protrusio acetabuli, Scoliosis, Ventricular hypertrophy, Left ventricular hypertrophy, Bruising s... OMIM:613795
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... ORPHA:2255
Cardiofaciocutaneous Syndrome 3
Webbed neck, Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Sc... OMIM:615279
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Congenital h... ORPHA:2970
Woods Syndrome
Limited elbow extension, Supernumerary nipple, Ventricular septal defect, Optic atrophy OMIM:615236
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Cutis marmorata, Patent ductus arteriosus, Cryptorchidism, Hypertrophic cardiomyopath... OMIM:612938
Dysosteosclerosis
Abnormal cranial nerve morphology, Delayed eruption of teeth, Hypoplastic vertebral bodies, Platy... ORPHA:1782
Lethal Acantholytic Erosive Disorder
3-4 finger syndactyly, Intrauterine growth retardation, Abnormal helix morphology, 4-5 finger syn... ORPHA:158687
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Mediastinal lymphadenopathy, Cor pulmonale,... ORPHA:2302
Recombinant 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Scoliosis, P... ORPHA:96167
Alagille Syndrome
Abnormal form of the vertebral bodies, Atrial septal defect, Cryptorchidism, Peripheral pulmonary... ORPHA:52
Imerslund-Grasbeck Syndrome 1
Vitamin B12 deficiency, Malabsorption of Vitamin B12 OMIM:261100
Pseudopseudohypoparathyroidism
Short neck, Delayed eruption of teeth, Pseudohypoparathyroidism OMIM:612463
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Maxillonasal Dysplasia
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Low level... ORPHA:1248
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Petechiae, Diabetes insipidus, Purpura, Erythema, Splenomegaly, Prolonged neonata... OMIM:225750
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Pelvic kidney, Vesicoureteral reflux OMIM:603467
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atr... ORPHA:1908
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Multic... OMIM:614527
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Urticaria, Vasculitis, Lymphadenopathy, Acrocyanosis, Purpura, Arthritis ORPHA:343
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Brachydactyly, Type B1
Thoracolumbar scoliosis, Delayed eruption of permanent teeth, Vertebral fusion, Ventricular septa... OMIM:113000
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Gray matter heterotopia, Spina bifida, Cervical myelopathy OMIM:207950
Tarp Syndrome
Cyanosis, Tetralogy of Fallot, Widely patent fontanelles and sutures, Atrial septal defect, Crypt... ORPHA:2886
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Cryptorchidism, Situs inversus totalis, Cardiomyopath... OMIM:249270
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Cryptorc... ORPHA:3097
Eiken Syndrome
Clinodactyly, Delayed ossification of carpal bones, Type A1 brachydactyly, Fibular hypoplasia, Br... OMIM:600002
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Diabetes mellitus, Thrombo... ORPHA:49827
Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Ventricular s... OMIM:300712
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Aortic valve stenosis, Abnormal atrioventricular valve morphology, Con... ORPHA:324410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Inguinal hernia, Metacarpophalangeal joint hyperextensibility, Hallux valgus, Cardiom... OMIM:245600
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Patent ductus arteriosus, Atrial septal defect, Increased... OMIM:612561
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin A, Low levels of vitamin D OMIM:613658
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Attrv122I Amyloidosis
Tendon rupture, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Car... ORPHA:85451
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Ventricular septal defect, Platyspondyly ORPHA:93267
Oculoauriculofrontonasal Syndrome
Scoliosis, Ventricular septal defect, Encephalocele ORPHA:398156
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Hypothyroidism, Hepatosplenomegaly, Cutis marmorata, Hypertrophic cardiomyop... ORPHA:51
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Hip dislocation OMIM:613458
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Pulmonary artery atresia, Secundum atrial septa... OMIM:108900
Orofaciodigital Syndrome Type 14
Webbed neck, Short neck, Patent ductus arteriosus, Periventricular heterotopia, Ventricular septa... ORPHA:434179
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short neck, Patent ductus arteriosus, Thoracolumbar scoliosis, Ventricular septal defect, Bilater... OMIM:300472
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Patent ductus arteriosus, Radial head subluxation, Cryptorchi... OMIM:146510
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial septal defect, A... ORPHA:1335
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Acrocyanosis, Thrombocytosis, Increased circulatin... ORPHA:2905
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Low serum calcitriol, Abnormal femoral neck/head morphology, Abnormal lower... ORPHA:2788
Mosaic Trisomy 9
Webbed neck, Short neck, Cystic hygroma, Patent ductus arteriosus, Endocardial fibroelastosis, At... ORPHA:99776
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Cryptorchidism, Tracheoesophageal fistula, Abnormal vertebral morpholog... ORPHA:77298
Char Syndrome
Patent ductus arteriosus, Supernumerary nipple, Symphalangism of the 5th finger, Ventricular sept... ORPHA:46627
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Cyanosis, Patent foramen o... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Hearing impairment OMIM:618838
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Hepatomegaly, Myopathy, Cardiomegaly ORPHA:42
8Q12 Microduplication Syndrome
Atrial septal defect, Abnormal cranial nerve morphology, Ventricular septal defect ORPHA:228399
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Hearing impairment OMIM:105210
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Persistence of hemoglo... OMIM:619769
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Leigh Syndrome With Leukodystrophy
Anemia, Hypertrophic cardiomyopathy, Ventricular septal defect, Optic atrophy ORPHA:255241
Hemochromatosis, Type 1
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:235200
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Hemivertebrae, Ventricular septal defect, Patent ductus arteriosus OMIM:608406
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Scoliosis, Ventricular septal defect ORPHA:357225
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Metaphyseal irregularity, Delayed eruption of teeth, Tibial bowing, High seru... OMIM:277440
Thakker-Donnai Syndrome
Webbed neck, Tetralogy of Fallot, Cervical C2/C3 vertebral fusion, Short neck, Tracheoesophageal ... ORPHA:1780
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Abnormal cortical gyration, Patent ductus arteriosus, Atrial septal defect, Splenom... OMIM:614576
Primary Intestinal Lymphangiectasia
Pericardial effusion, Low levels of vitamin D, Abnormality of vitamin metabolism ORPHA:90362
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Abnormal retinal artery morphology, Cyanosis, Myocardial ... ORPHA:51608
Opitz Gbbb Syndrome
Vertebral segmentation defect, Craniosynostosis, Patent foramen ovale, Patent ductus arteriosus, ... ORPHA:2745
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... ORPHA:2041
Roifman Syndrome
Eosinophilia, Biconvex vertebral bodies, Splenomegaly, Ventricular septal defect, Lymphadenopathy... OMIM:616651
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Ventricular septal defect, Cardiomegaly, Decreased response to growth hormone stim... OMIM:602782
Dravet Syndrome
Limited knee extension, Limited neck range of motion, Cyanotic episode ORPHA:33069
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short neck, Patent ductus arteriosus, Scoliosis, Ventricular septal defect, Optic disc coloboma ORPHA:52055
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Neonatal death, Misalignment of the pulmonary veins OMIM:265120
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Atr... ORPHA:99125
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Eosinophilia, Tetralogy of Fallot, Genu varum, Hepatosplenomegaly, Leukoc... OMIM:274000
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Patent ductus arteriosus, Triphalangeal thumb, Atresia of the external audit... OMIM:612562
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Polymicrogyria, Cutis marmorata, Ventricular septal defect OMIM:602501
Myopathy With Extrapyramidal Signs
Leukocytosis, Short neck, Perisylvian polymicrogyria, Splenomegaly, Peripheral axonal neuropathy,... OMIM:615673
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Ventricular septal defect, Multiple suture craniosynostosis ORPHA:3369
Pelger-Huet Anomaly
Kyphosis, Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophi... OMIM:169400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Craniosynostosis, Atrial septal defect, Subvalvular aortic stenosis, Coarctation ... OMIM:614114
Van Maldergem Syndrome 2
Micropenis, Renal hypoplasia, Hypospadias OMIM:615546
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect, Hip dislocation OMIM:619083
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Cryptorchidism, Aganglionic megacolon, Pachygyria, Ventricular septal d... ORPHA:452
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Ventricular sep... ORPHA:457193
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Patent foramen ovale, Cryptorchidism, Coarctation of aorta, Metopic synostos... OMIM:618748
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Tricuspid valve prolapse, Coarctation of aorta, Abnormal cartilage morphology, A... ORPHA:2396
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coronary artery atherosclerosi... ORPHA:435638
Unilateral Polymicrogyria
Cyanosis, Perisylvian polymicrogyria, Abnormal heart morphology, Pulmonary arteriovenous malforma... ORPHA:268943
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Lissencephaly, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Anemia, Ventr... ORPHA:163979
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Sagittal craniosynostosis, Ventricular septal defect OMIM:314320
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Gm1 Gangliosidosis
Cherry red spot of the macula, Hepatosplenomegaly, Abnormal form of the vertebral bodies, Patent ... ORPHA:354
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Spondylo-Ocular Syndrome
Webbed neck, Thoracic kyphosis, Short neck, Platyspondyly, Ventricular septal defect, Low posteri... ORPHA:85194
Pulmonary Capillary Hemangiomatosis