Ventricular septal defect

Symptom Information:

Symptom ID: HPO:0001629
Synonyms:
Ventricular septal defects [HPO:0001629]
Ventriculoseptal defect [HPO:0001629]
Ventricular septal abnormality (disorder) [Orphanet:34480]
Ventricular septal defect (disorder) [Orphanet:34480]
Ventricular Septal Defects [Orphanet:34480]
Ventricular septal defect [OMIM:Ventricular septal defect]
Ventricular septal defects [OMIM:Ventricular septal defects]
Ventriculoseptal defect [OMIM:Ventriculoseptal defect]
Ventricular septal defect/interventricular communication [Orphanet:34480]
Ventricular septal defect [Orphanet:34480]
Ventricular septal defect [MedDRA:10047298]
Congenital ventricular septal defect [MedDRA:10047298]
Defect interventricular septum [MedDRA:10047298]
Septum interventricular patent [MedDRA:10047298]
Ventricular septal defect NOS [MedDRA:10047298]
VSD [MedDRA:10047298]
Membranous ventricular septal defect [MedDRA:10047298]
Muscular ventricular septal defect [MedDRA:10047298]
Ventricular septal defect (1 patient) [OMIM:Ventricular septal defect (1 patient)]
Ventricular septal defect (VSD) [OMIM:Ventricular septal defect (VSD)]
Ventricular septal defect (homozygote) [OMIM:Ventricular septal defect (homozygote)]
Ventricular septal defect (in 1 patient) [OMIM:Ventricular septal defect (in 1 patient)]
Ventricular septal defect (in one patient) [OMIM:Ventricular septal defect (in one patient)]
Ventricular septal defect (in some patients) [OMIM:Ventricular septal defect (in some patients)]
Ventricular septal defect (less common) [OMIM:Ventricular septal defect (less common)]
Ventricular septal defect (male) [OMIM:Ventricular septal defect (male)]
Ventricular septal defect (rare) [OMIM:Ventricular septal defect (rare)]
Ventricular septal defect, membranous [OMIM:Ventricular septal defect, membranous]
Ventricular septal defects, muscular [OMIM:Ventricular septal defects, muscular]
Quality:
Cross references:
Orphanet:34480 "Ventricular septal defect/interventricular communication" [Orphanet:34480]
OMIM: "Ventricular septal defect" [OMIM:Ventricular septal defect]
OMIM: "Ventricular septal defects" [OMIM:Ventricular septal defects]
OMIM: "Ventriculoseptal defect" [OMIM:Ventriculoseptal defect]
OMIM: "Ventricular septal defect (1 patient)" [OMIM:Ventricular septal defect (1 patient)]
OMIM: "Ventricular septal defect (VSD)" [OMIM:Ventricular septal defect (VSD)]
OMIM: "Ventricular septal defect (homozygote)" [OMIM:Ventricular septal defect (homozygote)]
OMIM: "Ventricular septal defect (in 1 patient)" [OMIM:Ventricular septal defect (in 1 patient)]
OMIM: "Ventricular septal defect (in one patient)" [OMIM:Ventricular septal defect (in one patient)]
OMIM: "Ventricular septal defect (in some patients)" [OMIM:Ventricular septal defect (in some patients)]
OMIM: "Ventricular septal defect (less common)" [OMIM:Ventricular septal defect (less common)]
OMIM: "Ventricular septal defect (male)" [OMIM:Ventricular septal defect (male)]
OMIM: "Ventricular septal defect (rare)" [OMIM:Ventricular septal defect (rare)]
OMIM: "Ventricular septal defect, membranous" [OMIM:Ventricular septal defect, membranous]
OMIM: "Ventricular septal defects, muscular" [OMIM:Ventricular septal defects, muscular]
UMLS:C0018818 "Ventricular Septal Defects" [Orphanet:34480]
Is a (Direct Parents):
Orphanet Congenital septal defect
HPO         Abnormality of the ventricular septum
MedDRA Myocardial disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormal heart morphology(HPO:0001627)
             obsolete Malformation of the heart and great vessels(HPO:0002564)
                Abnormality of the cardiac septa(HPO:0001671)
                   Abnormality of the ventricular septum(HPO:0010438)
                      Ventricular septal defect(HPO:0001629)
                Abnormality of cardiac ventricle(HPO:0001713)
                   Abnormality of the ventricular septum(HPO:0010438)
                      Ventricular septal defect(HPO:0001629)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Abnormality of the myocardium(HPO:0001637)
       Myocardial disorders NEC(MedDRA:10028590)
          Ventricular septal defect(HPO:0001629)
Database Frequency: 316 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q14 microdeletion syndrome (Orphanet:261190)
16p13.11 microdeletion syndrome (Orphanet:261236)
16p13.11 microduplication syndrome (Orphanet:261243)
16p13.3 microduplication syndrome (Orphanet:96078)
16q24.3 microdeletion syndrome (Orphanet:261250)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2q31.1 microdeletion syndrome (Orphanet:251014)
3C syndrome (Orphanet:7)
3q29 microduplication (Orphanet:251038)
6p22 microdeletion syndrome (Orphanet:251046)
8p23.1 microduplication syndrome (Orphanet:251076)
8q12 microduplication syndrome (Orphanet:228399)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Aase-Smith syndrome (Orphanet:916)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-renal-ocular syndrome (Orphanet:959)
Acroosteolysis, dominant type (Orphanet:955)
Adams-Oliver syndrome (Orphanet:974)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Aldosterone-producing adenoma with seizures and neurological abnormalities (Orphanet:369929)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis (Orphanet:1112)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atrial septal defect - atrioventricular conduction defects syndrome (Orphanet:1479)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant coarctation of aorta (Orphanet:1455)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive omodysplasia (Orphanet:93329)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion (Orphanet:231130)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bohring-Opitz syndrome (Orphanet:97297)
Brachydactyly type B (Orphanet:93383)
Braddock syndrome (Orphanet:52047)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
C syndrome (Orphanet:1308)
CARPENTER SYNDROME 1 (OMIM:201000)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CHST3-related skeletal dysplasia (Orphanet:263463)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
CRANIOACROFACIAL SYNDROME (OMIM:122850)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Cantrell pentalogy (Orphanet:1335)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiomyopathy, dilated, 1R (OMIM:613424)
Cardiomyopathy, familial restrictive, 1 (OMIM:115210)
Cardiomyopathy, hypertrophic, 25 (OMIM:607487)
Carpenter syndrome (Orphanet:65759)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Char syndrome (Orphanet:46627)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital heart block (Orphanet:60041)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital rubella syndrome (Orphanet:290)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cooper-Jabs syndrome (Orphanet:1488)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Craniofacial dyssynostosis (Orphanet:1516)
Criss-cross heart (Orphanet:1461)
Cutis laxa (Orphanet:209)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
DIAMOND-BLACKFAN ANEMIA 5 (OMIM:612528)
DIGEORGE SYNDROME (OMIM:188400)
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE (OMIM:126320)
Deafness - onychodystrophy (Orphanet:3231)
Desbuquois syndrome (Orphanet:1425)
Diabetic embryopathy (Orphanet:1926)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 19p13.3 (Orphanet:96129)
Donnai-Barrow syndrome (Orphanet:2143)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Dysosteosclerosis (Orphanet:1782)
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA (OMIM:601348)
Ectrodactyly - spina bifida - cardiopathy (Orphanet:1894)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ellis Van Creveld syndrome (Orphanet:289)
Emanuel syndrome (Orphanet:96170)
Eng-Strom syndrome (Orphanet:1937)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FADD-related immunodeficiency (Orphanet:306550)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Faisalabad histiocytosis (Orphanet:254707)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Femoral-facial syndrome (Orphanet:1988)
Fetal minoxidil syndrome (Orphanet:1918)
Fetal trimethadione syndrome (Orphanet:1913)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Filippi syndrome (Orphanet:3255)
Focal dermal hypoplasia (Orphanet:2092)
Fryns syndrome (Orphanet:2059)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
Goldenhar syndrome (Orphanet:374)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Grange syndrome (Orphanet:79094)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
H syndrome (Orphanet:168569)
HETEROTAXY, VISCERAL, 1, X-LINKED (OMIM:306955)
HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT (OMIM:235750)
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Hand-foot-genital syndrome (Orphanet:2438)
Heart defect - round face - congenital developmental delay (Orphanet:1355)
Heart defects - limb shortening (Orphanet:1354)
Hennekam syndrome (Orphanet:2136)
Hereditary orotic aciduria (Orphanet:30)
Heterotaxia (Orphanet:450)
His bundle tachycardia (Orphanet:3283)
Histiocytoid cardiomyopathy (Orphanet:137675)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holt-Oram syndrome (Orphanet:392)
Hydrolethalus (Orphanet:2189)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypertelorism, Teebi type (Orphanet:1519)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
Hypoplastic left heart syndrome 2 (OMIM:614435)
Idiopathic neonatal atrial flutter (Orphanet:45452)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isotretinoin-like syndrome (Orphanet:2306)
Ivemark syndrome (Orphanet:97548)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 18 (OMIM:614815)
KABUKI SYNDROME 1 (OMIM:147920)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome - heart disease (Orphanet:2326)
Kapur-Toriello syndrome (Orphanet:2328)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Koolen-De Vries syndrome (Orphanet:96169)
LAMBOTTE SYNDROME (OMIM:245552)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Lambert syndrome (Orphanet:1296)
Lateral meningocele syndrome (Orphanet:2789)
Left ventricular noncompaction (Orphanet:54260)
Left ventricular noncompaction 1 (OMIM:604169)
Leigh syndrome (Orphanet:506)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
Lymphedema - distichiasis (Orphanet:33001)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION (OMIM:249670)
MGAT2-CDG (Orphanet:79329)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
MMEP syndrome (Orphanet:3434)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUNGAN SYNDROME (OMIM:611376)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
Meacham syndrome (Orphanet:3097)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 4 (OMIM:611134)
Medeira-Dennis-Donnai syndrome (Orphanet:2476)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Methimazole embryofetopathy (Orphanet:1923)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 9 (Orphanet:99776)
Mowat-Wilson syndrome (Orphanet:2152)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multifocal atrial tachycardia (Orphanet:3282)
Multiple intestinal atresia (Orphanet:2300)
Mycophenolate mofetil embryopathy (Orphanet:268249)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 3 (OMIM:609942)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 8 (OMIM:615355)
Nager syndrome (Orphanet:245)
Nephronophthisis 2 (OMIM:602088)
Neu-Laxova syndrome (Orphanet:2671)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okihiro syndrome (Orphanet:93293)
Opitz G/BBB syndrome (Orphanet:2745)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PELGER-HUET ANOMALY (OMIM:169400)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
PHACE syndrome (Orphanet:42775)
PHAVER syndrome (Orphanet:2876)
Pallister-Hall syndrome (Orphanet:672)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Peters-plus syndrome (Orphanet:709)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal spinal muscular atrophy type 1 (Orphanet:83330)
Prune belly syndrome (Orphanet:2970)
Pulmonary atresia with ventricular septal defect (Orphanet:1207)
RIENHOFF SYNDROME (OMIM:615582)
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL (OMIM:610338)
ROBERTS SYNDROME (OMIM:268300)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Roberts syndrome (Orphanet:3103)
Rosaï-Dorfman disease (Orphanet:158014)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SOTOS SYNDROME 1 (OMIM:117550)
Senior-Loken syndrome 8 (OMIM:616307)
Severe dermatitis-multiple allergies-metabolic wasting syndrome (Orphanet:369992)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Syndromic diarrhea (Orphanet:84064)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Tetrasomy 12p (Orphanet:884)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thrombocytopenia - absent radius (Orphanet:3320)
Timothy syndrome (Orphanet:65283)
Townes-Brocks syndrome (Orphanet:857)
Transketolase deficiency (ORPHA:488618)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Ulnar-mammary syndrome (Orphanet:3138)
Umbilical cord ulceration - intestinal atresia (Orphanet:3405)
VACTERL/VATER association (Orphanet:887)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Ventricular septal defect (Orphanet:1480)
WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Warsaw breakage syndrome (Orphanet:280558)
Weill-Marchesani syndrome (Orphanet:3449)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
XK aprosencephaly (Orphanet:3469)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)