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Gene: Aldh1a2 MGI:107928

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Cryptorchi... 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
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Inguinal hernia ORPHA:1296
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Ventricular septal defect, Abnormality of cartilage of external ear... ORPHA:3426
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary... OMIM:192430
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Verheij Syndrome
Branchial cyst, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Short neck, ... OMIM:615583
Tricuspid Atresia
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... ORPHA:1209
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ventricular septal defect, Cryptorchidism, Abnormal heart... ORPHA:401935
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
You-Hoover-Fong Syndrome
Coarctation of aorta, Kyphoscoliosis, Double aortic arch, Vascular ring OMIM:616954
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion contracture, Vascular ring,... OMIM:603387
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... ORPHA:95430
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Ethanolaminosis
Cardiomegaly OMIM:227150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Tracheal atresia, Coarctation of aorta OMIM:601612
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch... OMIM:617478
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1131
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Facial pal... OMIM:620186
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left atrium, Mul... OMIM:601186
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Double aortic arch, Splenomegaly OMIM:230900
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Abnormal optic ... OMIM:617516
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Emanuel Syndrome
Thickened nuchal skin fold, Torticollis, Congenital hip dislocation, Truncus arteriosus, Ventricu... OMIM:609029
Adams-Oliver Syndrome 6
Splenomegaly, Truncus arteriosus, Ventricular septal defect, Cutis marmorata OMIM:616589
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmon... ORPHA:2326
Acrocardiofacial Syndrome
Joint dislocation, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of ... ORPHA:2008
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Monosomy 22
Aplasia of the thymus, Short neck, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly,... ORPHA:96123
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar... OMIM:611788
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Emanuel Syndrome
Delayed eruption of teeth, Redundant neck skin, Truncus arteriosus, Ventricular septal defect, Co... ORPHA:96170
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Thoracic scoliosis, Short n... OMIM:617022
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Familial Aortic Dissection
Cutis marmorata, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extrace... ORPHA:229
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Par... OMIM:188400
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Absence Of The Pulmonary Artery
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal h... ORPHA:980
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Truncus arteriosus, Ventricula... ORPHA:508498
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... ORPHA:435938
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... ORPHA:52429
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Atrial sept... ORPHA:261330
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
22Q11.2 Deletion Syndrome
Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypo... ORPHA:567
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, P... OMIM:600001
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... ORPHA:261243
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Sensorineural hearing impairment, Decreased circulat... ORPHA:352641
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Diamond-Blackfan Anemia 9
Low levels of vitamin D, Webbed neck OMIM:613308
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Ab... ORPHA:2876
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Metaphyseal chondrodysplasia, Metaphyseal widening, Decreased circulat... ORPHA:811
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Cryp... ORPHA:453499
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... ORPHA:3304
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Stillbirth, Aortic valve stenosis, Pulmonic... OMIM:615415
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Ventricular septal defect, Optic... ORPHA:508488
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Cryptorchidism, Vertebral segmentation defect, Abnormal aortic morphol... ORPHA:1166
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Perching Syndrome
Cyanosis, Scoliosis OMIM:617055
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... OMIM:619656
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Jaundice, Optic nerve dysplasia, Abnormal heart morphology, Hypoplasia of the thy... OMIM:214110
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration ORPHA:209902
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil... OMIM:615297
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Maternal Uniparental Disomy Of Chromosome 4
Reduced circulating vitamin A concentration, Sensorineural hearing impairment, Decreased circulat... ORPHA:96180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia ORPHA:171839
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lym... OMIM:620210
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma, Vascular dilat... ORPHA:221098
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... OMIM:614096
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... OMIM:214800
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect, Scoliosis OMIM:619717
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Antecubital pterygium, Conotruncal defect ORPHA:40366
Even-Plus Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia OMIM:616854
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Short neck, Pericardial effusion, Cardiomegaly... OMIM:239850
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... ORPHA:1937
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Spinal dysraphism, Abnormality of... ORPHA:1926
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Left ventricular hypertrophy, Left a... OMIM:300280
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Calcification of cartilage, ... ORPHA:85202
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis ORPHA:2762
Tick-Borne Encephalitis
Stiff neck, Facial palsy, Leukocytosis, Leukopenia, Abnormal glossopharyngeal nerve morphology, P... ORPHA:297
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Renal hypoplasia ORPHA:2256
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasia ORPHA:85284
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Hearing impairment ORPHA:858
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Aortic isthmus hypoplasia, Atrial septal defect, S... OMIM:180849
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Abetalipoproteinemia
Cardiomegaly, Decreased circulating vitamin E concentration, Reduced circulating vitamin A concen... ORPHA:14
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Craniosynostosis, Ankle flexion contracture, Short neck, Simplified g... ORPHA:284417
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Holoprosencephaly
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Conge... ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal cortical gyration, Elbow dislocation, Abnormality of th... ORPHA:2538
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia, Cardiomegaly OMIM:300886
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, ... ORPHA:371428
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Tracheoesophageal fistula, Coarctati... ORPHA:1923
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:309031
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fis... ORPHA:861
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Secundum atrial septal defect, Patellar hypoplasia, Hypoxemia, Abnormal p... ORPHA:2257
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Bilateral Polymicrogyria
4-layered lissencephaly, Perisylvian polymicrogyria, Central hypothyroidism, Facial diplegia, Abn... ORPHA:268940
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, ... ORPHA:352665
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop... OMIM:616276
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Jaundice, Ty... ORPHA:290
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Venous insufficiency, Splenomegaly, Abnormality of the parat... ORPHA:2969
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Renal hypoplasia ORPHA:464288
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Li-Campeau Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... OMIM:619189
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Formiminoglutamic Aciduria
Atrial septal defect, Increased blood folate concentration, Abnormality of folate metabolism ORPHA:51208
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ... OMIM:203500
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Metaphyseal irregularity OMIM:269920
Alg3-Cdg
Abnormality of the endocrine system, Cardiomyopathy, Neural tube defect, Coarctation of the desce... ORPHA:79321
Monosomy 18Q
Absence of the pulmonary valve, Kyphoscoliosis, Secundum atrial septal defect, Left aortic arch w... ORPHA:1600
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorine... OMIM:618652
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Coarctation of aorta, A... OMIM:618494
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... OMIM:265380
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... ORPHA:261337
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Progeroid facial appearance, Vascular dilatation, Hypoplasi... OMIM:613177
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... ORPHA:84064
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Kyphoscoliosis OMIM:614846
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:353281
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Join... OMIM:179613
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent metopic ridge, Bicuspid aortic valve, Short neck, Muscular ventricular septal defect, P... OMIM:612474
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... ORPHA:60041
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Cach Syndrome
Renal hypoplasia ORPHA:135
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Patent du... OMIM:300514
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial sept... OMIM:612541
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Decreased circulating calcifediol concentration, Bowing of the legs, Flared... OMIM:619073
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia ORPHA:85321
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:392
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Short nec... ORPHA:1517
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Scoliosis ORPHA:1388
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Delayed closure... ORPHA:2962
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Renal hypoplasia ORPHA:254913
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... OMIM:610655
Noonan Syndrome 9
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... OMIM:616559
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Breath-Holding Spells
Cyanosis OMIM:607578
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri... OMIM:619167
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney OMIM:609053
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductus arteriosus, ... OMIM:606003
Contractural Arachnodactyly, Congenital
Hip contracture, Congenital kyphoscoliosis, Ventricular septal defect, Bicuspid aortic valve, Kyp... OMIM:121050
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Prominent crus of helix, Abnormal cardiac ventricle morphology,... ORPHA:261311
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia,... OMIM:619657
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Primary Sclerosing Cholangitis
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:171
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Short neck, Cryp... OMIM:617506
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Patent ductus arteriosus, Scol... OMIM:618316
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Esophageal Atresia
Subglottic stenosis, Cyanosis, Ventricular septal defect, Maternal diabetes, Tracheoesophageal fi... ORPHA:1199
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Carpenter Syndrome 1
Short neck, Atrial septal defect, Spina bifida occulta, Genu varum, Sagittal craniosynostosis, Pe... OMIM:201000
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis ORPHA:747
Nemaline Myopathy 9
Ventricular septal defect, Scoliosis OMIM:615731
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Decreased size of nerve terminals, Scoliosis ORPHA:98913
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl... ORPHA:210122
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... ORPHA:466950
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Ventricular septal defect, Hyperlordosis, Periventricular heterotopia, Patent ... OMIM:618870
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductu... ORPHA:500159
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Congenital Tracheal Stenosis
Cyanosis, Ascending aorta hypoplasia, Patent ductus arteriosus, Tracheoesophageal fistula, Preduc... ORPHA:141127
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Posteriorly rotated ears, Fractured radius, Short neck, C... OMIM:616897
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Inguinal hernia, Cardiomegaly, Splenomegaly, Sensorineural... OMIM:256550
Distal Triplication 15Q
Craniosynostosis, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart mor... ORPHA:314588
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Femoral-Facial Syndrome
Ventricular septal defect, Maternal diabetes, Limited elbow movement, Cryptorchidism, Humeroradia... OMIM:134780
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Tarsal synostosis, Abnormal form of the ver... ORPHA:3429
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... OMIM:620067
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Autosomal Recessive Polycystic Kidney Disease
Decreased circulating vitamin E concentration, Reduced circulating vitamin A concentration, Low-s... ORPHA:731
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Pachygyria, Ventricular septal defect, Pineal cyst ORPHA:513456
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:353277
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Right ventr... OMIM:619472
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch OMIM:616920
Fryns Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Short neck, Cryptorchidism, Abnormal aortic ar... ORPHA:2059
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Intrauterine growth re... OMIM:253250
Noonan Syndrome 10
Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Patent ductus arteriosus, ... OMIM:616564
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... OMIM:212140
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia, Short neck, Kyph... ORPHA:7
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of aorta, Atrioven... OMIM:617088
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductu... ORPHA:284984
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Cryptorc... OMIM:605275
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Scoliosis OMIM:608227
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Optic atrophy, Stroke, Atrial... ORPHA:49827
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d... OMIM:617159
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Low levels of vitamin B1, Severe conduc... ORPHA:90646
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Posteriorly rotated ears, Bra... OMIM:618143
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Low posterior hairline, Limited neck range of motion, Fuse... OMIM:214300
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Optic nerve hypoplasia, Tracheal stenosis, Cervical kyphosis, Pulmonar... ORPHA:79345
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abno... ORPHA:268882
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ... ORPHA:477817
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Bruising susce... ORPHA:335
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Marden-Walker Syndrome
Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration OMIM:261100
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Patent ductus arteriosus, He... OMIM:164210
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Ventricular septal defect, Periventricular heterotopia, Cry... OMIM:615948
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Double outle... ORPHA:1596
Immunodeficiency 9
Ectodermal dysplasia, Hypoplasia of the thymus OMIM:612782
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Scoliosis, Atrial septal defect OMIM:301039
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Desbuquois Syndrome
Genu recurvatum, Ventricular septal defect, Camptodactyly of finger, Short neck, Elbow dislocatio... ORPHA:1425
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Low... OMIM:300963
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventric... OMIM:264480
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Cryptor... OMIM:301056
Teebi Hypertelorism Syndrome 1
Natal tooth, Ventricular septal defect, Sagittal craniosynostosis, Hydrocele testis, Aortic root ... OMIM:145420
Periventricular Nodular Heterotopia 7
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Noonan Syndrome 8
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut... OMIM:615355
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Optic atrophy, Cardiomegaly ORPHA:391428
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Periventricular hetero... OMIM:618974
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... OMIM:618624
Lateral Meningocele Syndrome
Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cryptorchidism, P... OMIM:130720
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... OMIM:619542
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... OMIM:613795
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... ORPHA:2255
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Interphalangeal thumb... OMIM:613870
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... OMIM:616652
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Scoliosis, Umbilical ... OMIM:617751
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment OMIM:252920
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolonged neon... OMIM:225750
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Limb mus... OMIM:266500
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyl... ORPHA:158687
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Cardiomegaly ORPHA:3137
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coro... OMIM:620024
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy OMIM:207950
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s... OMIM:601808
Asbestos Intoxication
Cyanosis, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desa... ORPHA:2302
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Scoli... ORPHA:329224
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia OMIM:617660
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog... OMIM:601005
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Ogden Syndrome
Torticollis, Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Scoliosis, Del... ORPHA:276432
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Cardiomegaly, Wide distal femoral metaphysis, Microtia, Low-set ears, Met... OMIM:613320
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Atrial septal d... OMIM:245600
Dravet Syndrome
Limited neck range of motion, Cyanotic episode, Limited knee extension ORPHA:33069
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Short neck, Pachygyria, Cryptorchidism, Paten... OMIM:244300
Trisomy 13
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Kyphosis, Optic atrophy, Sco... ORPHA:3378
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Lymphadenopathy, Urticaria, Arthritis, Acrocyanosis, Purpura ORPHA:343
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Pseudohypoparathyroidism, Short neck OMIM:612463
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Scol... OMIM:615279
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Scoliosis, Atrial septal defect, ... ORPHA:1913
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Larsen Syndrome
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheal stenosis, Elbow dislocat... OMIM:150250
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:2970
Woods Syndrome
Limited elbow extension, Optic atrophy, Ventricular septal defect, Supernumerary nipple OMIM:615236
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Optic atrophy, Scoliosis, Widely patent f... ORPHA:2886
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Overfolded h... ORPHA:324410
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Myopathy, Left vent... OMIM:617713
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Periventricular heterotopia, Pat... ORPHA:434179
Alagille Syndrome
Ventricular septal defect, Butterfly vertebral arch, Telangiectasia of the skin, Cryptorchidism, ... ORPHA:52
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia OMIM:603467
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Maxillonasal Dysplasia
Low levels of vitamin K, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalang... ORPHA:1248
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Patent ductus arteriosus,... OMIM:612938
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis, Pa... ORPHA:96167
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosynostosis, Patellar subluxatio... OMIM:615879
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Cutis marmorata, Cryptorchidism, Kyphosis, Coarctation of aorta, Aorti... OMIM:617602
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis ORPHA:42
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,... OMIM:146510
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Optic atrophy, Hypoplastic vertebral bodies... ORPHA:1782
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hearing impairment, Cardiomegaly OMIM:618838
Brachydactyly, Type B1
Vertebral fusion, Ventricular septal defect, Thoracolumbar scoliosis, Hemivertebrae, Delayed erup... OMIM:113000
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Cryptorchi... OMIM:620025
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Tracheal stenosis, Cryptorchidism, Patent ductus a... OMIM:300712
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, S... OMIM:617635
Congenital Tricuspid Valve Dysplasia
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... ORPHA:555874
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Low levels of vitamin D, Fibular hypoplasia, Er... OMIM:600002
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal heart morpho... ORPHA:268943
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Poems Syndrome
Papilledema, Diabetes mellitus, Polycythemia, Pericardial effusion, Abnormality of the endocrine ... ORPHA:2905
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Low serum calcitriol, Decreased circulating calcifediol concentration,... OMIM:264700
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... ORPHA:46627
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Abnormal femoral neck/head morphology, Metaphyseal widening, Abnormal lower... ORPHA:2788
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Misalignment of the pulmonary veins OMIM:265120
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis, ... OMIM:615673
Primary Intestinal Lymphangiectasia
Pericardial effusion, Low levels of vitamin D, Abnormality of vitamin metabolism ORPHA:90362
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Ventricular septal defect, Short neck ORPHA:93267
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bowing of the legs, Subperiosteal bone resorption, High serum calcitri... OMIM:277440
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Osteoarthritis, Intracranial hemorrhage, Generalized abnorma... ORPHA:740
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Persistence of... OMIM:619769
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Prominent metopic ridge, Ventricular septal defect, Craniosynostos... ORPHA:2745
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Scoliosis ORPHA:398156
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... ORPHA:2041
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... OMIM:300472
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:228399
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... ORPHA:99125
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:235200
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Ventricular septal defe... OMIM:616651
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... ORPHA:439
Down Syndrome
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Aganglionic megacolon... OMIM:190685
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Optic disc coloboma, Scoliosis ORPHA:52055
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Kyphoscoliosis OMIM:614815
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... OMIM:612562
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hemivertebrae, Tracheoesopha... ORPHA:77298
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Short neck, Spina bifid... ORPHA:99776
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Reduced subcutaneous adipose tissu... OMIM:264090
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... ORPHA:1335
Eosinophilic Granulomatosis With Polyangiitis
Transient ischemic attack, Abnormal pericardium morphology, Eosinophilia, Cutis marmorata, Myocar... ORPHA:183
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis ORPHA:357225
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Craniosynostosi... OMIM:614114
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic morphology, Interrupted aort... ORPHA:2396
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Tracheal stenosis, Cryptorchidism, Patent ductus a... ORPHA:163979
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri... OMIM:618142
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Abnormal cortical gyration, Splenomegaly, Patent ductus ... OMIM:614576
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Shoulder dislocation, Ecchymosis, Acrocyanosis, Dislocated radial head, Premature... ORPHA:287
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, A... OMIM:615668
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Ventricular septal defect, Optic disc pallor OMIM:613730
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Metopic suture patent to nasal root, Multiple suture craniosynostosis ORPHA:3369
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Polymicrogyria, Ventricular septal defect, Cutis marmorata OMIM:602501
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, High serum calcitriol, Tibial bowing, Femoral bowing, Genu valgum, Fibu... OMIM:600785
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoxemia, Abnormal... ORPHA:199241
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Reduced hematocrit ORPHA:79126
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis,... ORPHA:435638
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Calcifica... ORPHA:51
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Optic atro... ORPHA:457193
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pachy... ORPHA:452
Thakker-Donnai Syndrome
Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophageal fistula, Transposition of... ORPHA:1780
Andersen-Tawil Syndrome
Renal tubular dysfunction, Renal hypoplasia ORPHA:37553
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis OMIM:314320
Congenital Disorder Of Glycosylation, Type Iit
Posteriorly rotated ears, Sandal gap, Small hand, Short foot, Low-set ears, Conductive hearing im... OMIM:618885
Weiss-Kruszka Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of... OMIM:618619
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature graying of hair, Prema... ORPHA:79474
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Scoliosis, Interrup... ORPHA:250989
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, Facial hypotonia, Cardiomegaly OMIM:618798
Van Maldergem Syndrome 1
Hypospadias, Renal hypoplasia OMIM:601390
Suleiman-El-Hattab Syndrome
Optic disc pallor, Ventricular septal defect, Cryptorchidism, Webbed neck, Atrial septal defect, ... OMIM:618950
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Patent ductus ar... ORPHA:354
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Diastasis recti, Cardiomegaly, Coxa valga, Myelopathy, Splenomegal... OMIM:252500
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia OMIM:619695
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Facial palsy, Cry... ORPHA:138
Van Maldergem Syndrome 2
Micropenis, Hypospadias, Renal hypoplasia OMIM:615546
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Pulmonary arteriovenous fistulas, Hypoxemia, Telangiectasia,... ORPHA:2038
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Cryp... OMIM:610443
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis, Camptodactyly of finger, Synostosis of carpal bones ORPHA:896
Noonan Syndrome 4
Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Pulmonic stenosis, Webbed ... OMIM:610733
Kleefstra Syndrome
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple... ORPHA:261494
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Stippled calcificati... ORPHA:60025
Cerebrofacioarticular Syndrome
Hypospadias, Renal hypoplasia ORPHA:314679
Filippi Syndrome
Cryptorchidism, Optic atrophy, Ventricular septal defect OMIM:272440
Spondylo-Ocular Syndrome
Ventricular septal defect, Short neck, Low posterior hairline, Platyspondyly, Thoracic kyphosis, ... ORPHA:85194
Mosaic Trisomy 16
Ventricular septal defect, Maternal diabetes, Large placenta, Patent ductus arteriosus, Coarctati... ORPHA:1708
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Fucosidosis
Cardiomegaly, Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Acrocyan... ORPHA:349
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormal earlobe... ORPHA:96191
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short neck, Elevated circulating thyroid-stimulating hormone concentra... OMIM:612462
Mosaic Trisomy 1
Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Increased nuchal transluc... ORPHA:1692
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coronary ... OMIM:614294
Lateral Meningocele Syndrome
Prominent metopic ridge, Ventricular septal defect, Short neck, Hyperlordosis, Cryptorchidism, Ky... ORPHA:2789
Kapur-Toriello Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria,... ORPHA:2328
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... OMIM:300998
Lead Poisoning
Delayed eruption of teeth, Low levels of vitamin D, Abnormality of vitamin D metabolism ORPHA:330015
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Metopic ... OMIM:618748
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria ORPHA:83473
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Single ventricle OMIM:619879
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... ORPHA:99106
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Atrial septal de... OMIM:612582
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Cryptorch... OMIM:609942
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration ORPHA:2772
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormal peripheral myelination, Increased circulating gonadotropin level, Testicul... ORPHA:168563
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... OMIM:235510
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, Tetralogy of Fallot ORPHA:3306
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios... OMIM:270100
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia... OMIM:208900
Mucopolysaccharidosis Type 3
Hepatomegaly, Mixed hearing impairment, Inguinal hernia, Thickened helices, Cardiomegaly, Abnorma... ORPHA:581
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, A... OMIM:220500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Ulnar deviation of the wrist, Wormian bones, Shor... ORPHA:96334
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Leukopenia, Atrial septal defect, Hypothyroidism, An... OMIM:620184
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cry... OMIM:613457
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating... OMIM:162300
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma ORPHA:2874
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Posteriorly rotated ears, Tapered toe, Cardiomegaly, Tapered finger, Long... OMIM:608836
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism, Elevated circulating parathyroid... OMIM:103580
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Craniosynostosis, Short neck, Precocious puberty, Cryptorchidism, Kyph... ORPHA:254346
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Codas Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Abnormal form o... ORPHA:1458
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Scoliosis, Anterior encephalocele OMIM:601357
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Proximal placement of thumb, Short neck, Short thumb, Sen... OMIM:113620
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cryptogenic Organizing Pneumonia
Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis ORPHA:1302
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Short neck, Cryptorchidism, Scoliosis, Atrial septal defect OMIM:617452
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Spina bifida... OMIM:301030
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Redundant neck skin, Ventricular septal defect, Adrenal hypoplasia, Cryptorchi... OMIM:214100
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Pulm... ORPHA:805
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Muscular ventricular septal ... OMIM:117550
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Multiple joint... OMIM:619503
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Kagami-Ogata Syndrome
Ventricular septal defect, Kyphoscoliosis, Splenomegaly, Patent ductus arteriosus, Pulmonic steno... OMIM:608149
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:619481
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Ventricular septal defect OMIM:616816
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... ORPHA:2519
Hyperoxaluria, Primary, Type I
Cutis marmorata, Optic neuropathy, Optic atrophy, Peripheral arterial stenosis, Acrocyanosis OMIM:259900
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Delayed cranial suture closure,... OMIM:105650
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Multiple mucosal neuromas, A... ORPHA:653
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Hypoplastic aortic arch, Optic nerve hypoplasia, Scoliosis ORPHA:457284
Congenital Myasthenic Syndrome
Cyanosis, Congenital hip dislocation, Kyphoscoliosis, Frontalis muscle weakness ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Congenital hip dislocation, Kyphoscoliosis, Frontalis muscle weakness ORPHA:98914
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morphology, Umbilical herni... ORPHA:369891
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12, Vitamin B12 deficiency OMIM:261000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, High se... OMIM:241530
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia OMIM:618067
X-Linked Intellectual Disability, Nascimento Type
Broad neck, Ventricular septal defect, Lower extremity joint dislocation, Cryptorchidism, Patent ... ORPHA:163956
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Cutis marmorata, Craniosynostosis, Short neck, Cryptorchidism, Patent ... ORPHA:96121
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta ORPHA:268249
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Acrocyanosis, Decreased testicular size, Abnormal heart morphology ORPHA:1867
Omodysplasia 1
Ventricular septal defect, Short neck, Limited knee flexion, Cryptorchidism, Pulmonary artery ste... OMIM:258315
Tetrasomy 5P
Redundant neck skin, Cyanosis, Short neck ORPHA:3309
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscle atrophy, ... ORPHA:2463
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe... OMIM:157800
Eisenmenger Syndrome
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia, Aor... ORPHA:97214
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... ORPHA:99104
Ulnar-Mammary Syndrome
Hypoplasia of penis, Renal hypoplasia ORPHA:3138
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Sensorineural hearing impairment, Hearing impairment, Cardiomegaly OMIM:105210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Scoliosis, Atrial septal defect ORPHA:505237
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi... OMIM:178110
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Increased nuchal translucency... ORPHA:261344
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia, Low-set ears, Neonatal de... OMIM:608013
Myasthenia Gravis
Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency, Abnormal... ORPHA:589
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Scoliosis, Narrow vert... OMIM:620073
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Tapered finger, Sensorineural hearing impairment, Finger joint hypermobility, Metacarpophalangeal... ORPHA:544503
Eosinophilic Fasciitis
Acrocyanosis, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Abnormal metacarpophalangeal joint morphology, Cardiomegaly,... ORPHA:465508
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marm... OMIM:100300
Zellweger Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Cryptorchidism, Jaundice, Primary adrenal ... ORPHA:912
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Ventricular septal defect, Kyphoscoliosis, Osteoarthritis, A... OMIM:615582
Chops Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Optic atrophy,... OMIM:616368
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Uplifted earlobe, Proximal placement of thumb, Protruding ear, S... OMIM:613406
Catel-Manzke Syndrome
Joint dislocation, Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Cryptor... OMIM:616145
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Optic atrophy, Abnormal heart morphology, Scoliosis ORPHA:494344
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Optic atrophy, Stroke-like episode, Polycystic... ORPHA:137675
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Thoracolumbar scoliosis,... OMIM:301068
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Short femur, Cardiomegaly, Talipes equinovarus, Short tibia, Limb hyp... OMIM:620306
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Patent ductus arteriosus, Decreased adenosylcobalamin, Decreased methylco... OMIM:614857
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Scoliosis ORPHA:1488
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis... OMIM:618775
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration, Bowing of the legs, Femoral bowing, Tibial bowin... OMIM:600081
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Optic atrophy, Simplified gyral pattern, Atrial septal defect, Patent ... OMIM:614261
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Subvalvular aortic stenosis, Atri... OMIM:613001
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, Ventricular septal defect, Scoliosis, Dextrotransposition of the great arteries OMIM:619995
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Annular pancreas, Hip disloc... ORPHA:2308
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney OMIM:619297
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Apert Syndrome
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Limited elbow movement, S... OMIM:101200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... ORPHA:308552
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Throm... OMIM:274000
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Sepsis In Premature Infants
Cyanosis, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropenia, Thrombocytopenia,... ORPHA:90051
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Scoliosis, Atrial septal defect OMIM:617061
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Abnormal pe... ORPHA:88628
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus art... OMIM:616894
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Ventricular septal defect, Bicuspid ... ORPHA:457279
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Warsaw Breakage Syndrome
Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata OMIM:613398
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:619259
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... OMIM:250790
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Limited elbow movement, Short neck, Delayed clo... OMIM:610759
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Simplified gyral pa... OMIM:616777
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Optic atrophy, Intracranial hemorrhage OMIM:614424
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy OMIM:261680
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Choanal Atresia
Subglottic stenosis, Cyanosis, Craniosynostosis ORPHA:137914
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Congenital hip dislocation, Ventricular septal defect, Ovoid vertebral bodies,... OMIM:244450
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Low serum calcitriol, Irregular, rachitic-like metaphyses, Subperioste... ORPHA:289157
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect OMIM:309520
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Ky... OMIM:163950
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Wormian bones, Venous insufficiency, Decreased nerve conduction velocity, Oste... ORPHA:285
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Short ne... ORPHA:1507
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Thyroid lymphangiecta... OMIM:235255
Kury-Isidor Syndrome
Ventricular septal defect, Scoliosis, Short neck OMIM:619762
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Hip dis... ORPHA:447980
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Robinow Syndrome
Fused thoracic vertebrae, Ventricular septal defect, Kyphoscoliosis, Persistence of primary teeth... ORPHA:97360
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Dilated ca... OMIM:614921
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis OMIM:617450
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Ventricular septal defect, Cryptorchidism, Splenomegaly, Opt... OMIM:614866
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve... ORPHA:93311
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Low serum calcitriol, Sensorineural hearing impairment, Coxa vara, Tib... ORPHA:289176
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ... ORPHA:363958
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Craniosynostosis, Abnormality of the endocrine system, Cryptorchidism,... ORPHA:166035
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Dextrocardia, Patent ductus arteriosus, Decreased adenosylcobalamin, Decr... OMIM:277380
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... OMIM:600460
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Cryptorchidism, Pa... OMIM:139210
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve prolapse, Ascending tubular a... ORPHA:444072
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Sagittal craniosynostosis OMIM:616901
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Increased circ... OMIM:270450
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri... OMIM:611134
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Perimembranous ventricular s... ORPHA:99095
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Microlissencephaly, Knee flexion contracture, Atrial septal defect, Pachygyria, Paten... OMIM:210710
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Sensorineural hearing impairment, Abnormality of vitamin D metabolism, Drumstick terminal phalanges ORPHA:541423
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa... OMIM:158170
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Ventricular septal defect, Ulnar deviation of the wri... OMIM:605039
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Short neck, Low posterior hairline, Aortic root... ORPHA:96201
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Periventricular heterotopia, Cryptorchidism, K... ORPHA:261250
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... OMIM:619488
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Complete Atrioventricular Septal Defect
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... ORPHA:1329
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:203330
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... ORPHA:2911
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, ... OMIM:206900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Ventricular septal defect, Genu valgum OMIM:615630
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contract... OMIM:608328
Microsporidiosis
Myocarditis, Abnormality of the spleen, Lymphadenitis, Abnormality of the parathyroid gland, Thyr... ORPHA:2552
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous sys... ORPHA:48435
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Varicose veins, Cystic hygroma, We... OMIM:153400
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Patent ductus arter... OMIM:257920
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis OMIM:618027
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Cyanosis, Optic neuropathy, Splenomegaly, Concentric hypertrophic cardiomyopat... OMIM:252010
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Low posterior hairline, Scoliosis, Atrial septal ... OMIM:617360
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundice, Lissencephaly, Atrial septal... OMIM:208085
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Hyperlordosis OMIM:619980
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorc... ORPHA:251014
Folate Malabsorption, Hereditary
Reduced blood folate concentration OMIM:229050
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ... ORPHA:124
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Optic atrophy, Ventricular septal defect ORPHA:3078
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Congenital hip dislocation, Maternal diabetes, Cardio... OMIM:300855
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextro... ORPHA:3310
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Genu valgum ORPHA:488627
C Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hip dislocation, Scoliosis, ... OMIM:211750
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Decreased methylcobalamin OMIM:236270
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundice, Lissencephaly, Right ventric... OMIM:613404
Pontocerebellar Hypoplasia, Type 8
Talipes valgus, Ventricular septal defect, Patent foramen ovale, Scoliosis OMIM:614961
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent d... ORPHA:464311
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Otosclerosis, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Cong... ORPHA:116
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Optic disc coloboma,... OMIM:174300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple OMIM:106260
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Short neck OMIM:609654
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Low levels of vitamin D, Reduced blood folate concentration, Low levels o... OMIM:212750
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis ORPHA:159
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Radio-Tartaglia Syndrome
Precocious puberty, Gray matter heterotopia, Ventricular septal defect, Scoliosis OMIM:619312
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery stenosis, Webbed neck, Acu... OMIM:280000
Dietary Iron Overload Disease
Low levels of vitamin C, Abnormal heart morphology ORPHA:139507
Fucosidosis
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Macroglossia, Low-set ... OMIM:230000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Cryptorchidism, Kyphosis, Abnormal heart morphology, Scoliosis ORPHA:404440
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta ORPHA:17
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adre... ORPHA:293987
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... ORPHA:79329
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D, Bowing of the legs ORPHA:89937
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Bile Acid Synthesis Defect, Congenital, 4
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration OMIM:214950
Filippi Syndrome
Cryptorchidism, Optic atrophy, Ventricular septal defect, Supernumerary nipple ORPHA:3255
Hajdu-Cheney Syndrome
Ventricular septal defect, Kyphoscoliosis, Short neck, Cryptorchidism, Patent ductus arteriosus, ... OMIM:102500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Short neck, Pancreatic lymphangiectasis, Cryptorc... ORPHA:1655
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... OMIM:235730
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve p... ORPHA:3071
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Patent ductu... ORPHA:2473
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Short neck, Cryptorchidism, Scoliosis, Failure of er... ORPHA:2896
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia ORPHA:264200
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Wormian... OMIM:249420
Holt-Oram Syndrome
Thoracic scoliosis, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arter... OMIM:142900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia OMIM:620005
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... OMIM:301043
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Pyruvate Dehydrogenase E1-Alpha Deficiency
Polymicrogyria, Ventricular septal defect ORPHA:79243
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Decreased circulating vitamin E concentration, Cupped ear, Low levels of v... OMIM:617052
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, Metaphy... OMIM:300554
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... ORPHA:904
Marshall-Smith Syndrome
Thoracic scoliosis, Wormian bones, Ventricular septal defect, Optic nerve hypoplasia, Kyphoscolio... OMIM:602535
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, S... ORPHA:1465
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesis... OMIM:301040
Neu-Laxova Syndrome 1
Broad neck, Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Patent ductus ar... OMIM:256520
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum... OMIM:618901
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi... OMIM:613309
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Tracheal stenosis, Short neck, Cutis marmorata,... ORPHA:818
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Long neck, Cryptorchidism, Dysplastic tricuspid valv... ORPHA:1724
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... OMIM:615102
Vater/Vacterl Association
Occipital encephalocele, Laryngeal stenosis, Ventricular septal defect, Spina bifida, Patent duct... OMIM:192350
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... OMIM:143095
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:99880
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Ventricular septal defect, Facial palsy, Delayed closure of the anterior fontanelle,... OMIM:300373
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Polycystic ovaries ORPHA:1770
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Prominent metopic ridge, Ventricular septal defect, Shor... ORPHA:79328
Hajdu-Cheney Syndrome
Wormian bones, Ventricular septal defect, Mitral stenosis, Short neck, Hypoplastic 5th lumbar ver... ORPHA:955
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Optic atrophy, Mitral valve prolapse, Genu v... ORPHA:193
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Short neck, Pse... ORPHA:94089
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Neuropathic arthropathy, Decreased number of large peripheral myelinated... OMIM:223900
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Focal Dermal Hypoplasia
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Telangiectasia of the skin, Pat... ORPHA:2092
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol, Bowing of the legs ORPHA:157215
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... OMIM:194050
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis, Neonatal death OMIM:610921
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septa... ORPHA:769
Dent Disease 1
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, Metaphy... OMIM:300009
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Kyphosis, Pulmonic stenosis, Atrioventricula... OMIM:619123
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contra... ORPHA:97297
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Right unicoronal synostosis, Bicuspid aortic valve, Abnormal pulmonary... ORPHA:261537
Codas Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Cryptorchidism,... OMIM:600373
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Cardiomegaly, Abnormal finger m... ORPHA:3472
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Tbck-Related Intellectual Disability Syndrome
Prominent metopic ridge, Hyperthyroidism, Ventricular septal defect, Decreased response to growth... ORPHA:488632
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve prolapse, Genu valgum, Scoliosis OMIM:616202
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Ventricular septal defect, Decreased response to growth hormone stimulation ... ORPHA:444077
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... ORPHA:365
Fraser Syndrome 1
Micropenis, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia OMIM:219000
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Scoliosis... OMIM:614609
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:154400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Asplenia, Abnormality of the pulmonary artery, Pulmonary artery sling, Cry... ORPHA:261552
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... ORPHA:99103
Proteus Syndrome
Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of the neck, Abnormali... ORPHA:744
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, S... OMIM:612530
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocarditis, Vasculitis... ORPHA:221
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus ORPHA:91387
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin, Hearing impairment OMIM:617780
Sillence Syndrome
Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis... ORPHA:3168
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79444
Methylmalonic Acidemia With Homocystinuria Type Cblf
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin, Abnormal heart mo... ORPHA:79284
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Pachygyria, Hypothyroidism, Patent foramen ovale, Cr... OMIM:607872
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Congenital hip dislocation, Ventricular septal defect, Supernumerary nipple ORPHA:217346
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Thyroid agenesis, Cryptor... ORPHA:3047
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchidism, Pate... ORPHA:464306
Galloway-Mowat Syndrome 7
Cubitus valgus, Dilated cardiomyopathy, Ventricular septal defect, Kyphoscoliosis OMIM:618348
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Sco... OMIM:277600
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Kyphosis, Scoliosis, Left superior vena cava draining to coronary sinu... ORPHA:464738
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Lumbar hyperlordosis, Ventricular septal defect, Short neck, Cryptorchid... ORPHA:251028
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hip dislocation, Hypoplastic n... OMIM:618268
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Ventricular septal defect, Poor wound healing, Progeroid facial appe... OMIM:123700
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia OMIM:619950
Renpenning Syndrome 1
Hypospadias, Renal hypoplasia, Phimosis OMIM:309500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Renal hypoplasia OMIM:619321
Lissencephaly 9 With Complex Brainstem Malformation
Pachygyria, Ventricular septal defect, Lissencephaly OMIM:618325
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy, Scoliosis ORPHA:1764
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, ... ORPHA:2152
Trichothiodystrophy
Joint dislocation, Ventricular septal defect, Prematurely aged appearance, Craniosynostosis, Cryp... ORPHA:33364
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula... OMIM:236680
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Increased mean platelet volume, Large placenta, Splenomegaly, Jaundice... OMIM:222470
Congenital Bile Acid Synthesis Defect Type 2
Decreased circulating vitamin E concentration ORPHA:79303
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C... OMIM:130650
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Atri... ORPHA:1677
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:96097
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Renal hypoplasia OMIM:617157
Ethylene Glycol Poisoning
Cyanosis, Facial palsy ORPHA:31826
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc... OMIM:227645
Robin Sequence With Cleft Mandible And Limb Anomalies
4-5 metacarpal synostosis, Hip dislocation, Aplasia of the epiglottis, Acetabular dysplasia, Hip ... OMIM:268305
3Q29 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Short neck ORPHA:251038
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Atrial septal defect, Atrioventricula... ORPHA:672
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Fanconi Renotubular Syndrome 2
High serum calcitriol OMIM:613388
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Optic ... OMIM:616975
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect OMIM:618504
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Low levels of vitamin D, Dilated cardiomyopathy, Mitten deformity ORPHA:89842
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Low levels of vitamin D, Dilated cardiomyopathy, Abnormality of vitamin metabolism, Mitten deformity ORPHA:79408
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Hypobetalipoproteinemia, Familial, 1
Decreased circulating vitamin E concentration OMIM:615558
Autosomal Dominant Cutis Laxa
Redundant neck skin, Dilatation of the ventricular cavity, Protruding ear, Talipes equinovarus, L... ORPHA:90348
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Ventricular septal defect, Bicuspid aortic valve, Kyphoscoliosis, Short neck, ... OMIM:271640
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect, Short neck OMIM:610832
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:616449
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Ventricular septal defect, Vascular dilatation OMIM:219730
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve, Focal polymicrogyria OMIM:619103
Serkal Syndrome
Abnormality of the adrenal glands, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Webbed neck, Hy... ORPHA:1393
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Keutel Syndrome
Calcification of the auricular cartilage, Ventricular septal defect, Costal cartilage calcificati... OMIM:245150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine... ORPHA:438213
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Ventricular septal defect, Camptodactyly of finger,... ORPHA:373
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger, Optic atrophy, Madelung deformity, Abnormal f... ORPHA:2710
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migra... ORPHA:261236
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Thoracolumbar kyphoscoliosis, Short neck OMIM:212066
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis, B... ORPHA:466791
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol, Metacarpal periosteal thickening OMIM:617994
Liver Disease, Severe Congenital
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, ... OMIM:619991
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Kabuki Syndrome 1
Joint dislocation, Hemolytic anemia, Congenital hip dislocation, Ventricular septal defect, Prema... OMIM:147920
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Short neck, Cryptorc... OMIM:229850
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Cryptorchidism, Anencephaly, We... ORPHA:3380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Short neck, Pachygyria, Polymicrogyria OMIM:609460
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism ORPHA:94090
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep... OMIM:607721
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Decreased circulating vitamin E concentration, Abnormality of amino ... ORPHA:309854
Sotos Syndrome
No permanent dentition, Atrial septal defect, Hypothyroidism, Abnormal vertebral morphology, Flus... ORPHA:821
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Scoliosis OMIM:619229
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Chime Syndrome
Ventricular septal defect, Erythema, Hip dislocation, Tetralogy of Fallot, Acute leukemia, Transp... ORPHA:3474
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Craniosynostosis, Kyphosis, Patent ductus arterios... OMIM:617140
Jacobsen Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Optic atrophy, Atrial septal defect, Annul... OMIM:147791
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Arboleda-Tham Syndrome
Ventricular septal defect, Craniosynostosis, Secundum atrial septal defect, Bilateral cryptorchid... OMIM:616268
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Hip dislocation, Cervical C5/C6 vertebrae ... OMIM:613458
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Limited elbow movement, Short neck, Mitral valve ... OMIM:218040
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Meier-Gorlin Syndrome 7
Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the... OMIM:617063
Oculocerebrorenal Syndrome Of Lowe
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Low levels of vitamin D, Protruding... ORPHA:534
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin OMIM:251100
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... OMIM:615474
Short Stature-Micrognathia Syndrome
Cryptorchidism, Ventricular septal defect OMIM:617164
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Ventricular septal defect, Bicuspid aortic valve, Kyphosis, Jaundice, Neurofibroma, ... OMIM:619475
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia OMIM:309580
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:277410
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level OMIM:612089
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Broad neck, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Schwannoma, Abnormal heart ... ORPHA:363700
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Primary Hyperoxaluria
Optic disc pallor, Cutis marmorata, Optic atrophy, Cardiomyopathy, Acrocyanosis ORPHA:416
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Ventricular septal defect OMIM:234050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, Atrial septal ... ORPHA:26793
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Sple... OMIM:256040
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
High serum calcitriol OMIM:211900
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Atrial sep... ORPHA:1519
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Ventricular septal defect, Genu valgum OMIM:617798
Leigh Syndrome
Ventricular septal defect, Optic atrophy, Neutropenia, Hypertrophic cardiomyopathy, Sensory axona... ORPHA:506
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Bile duct prolifera... OMIM:619525
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ventricular septal defect, Patent ductus arteriosus, Elbow flexion co... OMIM:117650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... OMIM:616682
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Acetabular spurs OMIM:615503
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K, Talipes equinovarus OMIM:118650
Ataxia With Vitamin E Deficiency
Decreased circulating vitamin E concentration OMIM:277460
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Low-set ears, Mac... OMIM:277400
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... ORPHA:2369
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Knee flexion contracture OMIM:617239
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect, Cryptorchidism OMIM:300000
Diets-Jongmans Syndrome
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... OMIM:618846
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Spleno... OMIM:312870
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Dent Disease
High serum calcitriol, Metaphyseal irregularity, Bowing of the legs ORPHA:1652
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Platyspondyly, Atrial septal defect, Pachygyria OMIM:263520
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Polysplenia, Prolonge... OMIM:619418
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D, Delayed eruption of permanent teeth ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response to growth horm... ORPHA:268261
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Hip dislocation, Umbilical herni... OMIM:613884
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Ventricular septal defect... OMIM:606170
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Craniosynostosis OMIM:250410
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Ventricular septal defect, Precocious puberty, Cryptorchidism... OMIM:194190
Holoprosencephaly 14
Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot... OMIM:619895
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Microphthalmia, Syndromic 6
Renal hypoplasia OMIM:607932
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus totalis, Kyphosi... ORPHA:2461
Hand-Foot-Genital Syndrome
Ventricular septal defect, Synostosis of carpal bones ORPHA:2438
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Short neck, Craniosynosto... OMIM:268300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis OMIM:618426
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Optic neuropathy, Optic atrophy, Platyspondyly, Optic nerve compression OMIM:619727
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency, Hearing impairment OMIM:618922
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Decreased adenosylcobalamin OMIM:251110
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Pearson Syndrome
Cardiomyopathy, Abnormal heart morphology, Malabsorption of Vitamin B12, Hearing impairment ORPHA:699
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Short neck, Elbow dislocat... ORPHA:199
Early Infantile Epileptic Encephalopathy
Precocious puberty, Umbilical hernia, Pachygyria, Ventricular septal defect ORPHA:1934
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Scoliosis, Atrial septal de... OMIM:301044
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia OMIM:309800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Supernumerary nipple ORPHA:1071
Coffin-Lowry Syndrome
Cutis marmorata, Delayed closure of the anterior fontanelle, Kyphosis, Scoliosis, Acrocyanosis OMIM:303600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Scoliosis,... OMIM:619522
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Pallister-Killian Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Supernumerary n... OMIM:601803
Ulnar-Mammary Syndrome
Subglottic stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary h... OMIM:181450
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect OMIM:614653
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin D OMIM:613658
Proboscis Lateralis
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Optic nerve hypoplasia ORPHA:141099
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Yunis-Varon Syndrome
Wide cranial sutures, Redundant neck skin, Ventricular septal defect, Absent nipple, Congenital h... OMIM:216340
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology ORPHA:2237
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Prominent metopic ridge, Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Acute Transverse Myelitis
Nuchal rigidity, Vitamin B12 deficiency ORPHA:139417
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level ORPHA:3261
Congenital Erythropoietic Porphyria
Low levels of vitamin D ORPHA:79277
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia, Short neck OMIM:620330
Goodpasture Syndrome
Cyanosis, Anemia OMIM:233450
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis ORPHA:391665
Renal Agenesis
Ventricular septal defect ORPHA:411709
Johanson-Blizzard Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Splenomegal... OMIM:243800

Histopathology

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

There is no histopathology data for Aldh1a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aldh1a2.

No publications found that use IMPC mice or data for Aldh1a2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Aldh1a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aldh1a2tm40308(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aldh1a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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