Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Coiled sperm fla... |
OMIM:620197 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... |
OMIM:614874 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Absence of the sacrum, Ventricular septal defect, D... |
OMIM:270100 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:612650 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... |
OMIM:615500 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:616481 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... |
OMIM:618801 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing, Abnormal axonemal organization o... |
OMIM:613808 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... |
OMIM:613193 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... |
ORPHA:244 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Bronchiectasis, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... |
OMIM:610852 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... |
OMIM:615444 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo... |
OMIM:609008 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile c... |
OMIM:614935 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, Polysplenia, Micrognathia |
OMIM:612776 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Infertility |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 10 |
|
Ciliary dyskinesia, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Recurrent s... |
OMIM:612518 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dy... |
OMIM:614017 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Isomerism, Transposition of the great arteries, Pulmo... |
OMIM:314390 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... |
OMIM:606763 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary d... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... |
ORPHA:922 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Transposition of the great arteries, Atrial septal defec... |
ORPHA:1913 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Meacham Syndrome |
|
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Chronic bronchitis, Situs inversus totalis, Recur... |
OMIM:615482 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 35 |
|
Abdominal situs ambiguus, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic si... |
OMIM:617092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... |
OMIM:616037 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Abdominal situs inversus, Recurrent... |
OMIM:618699 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Tetralogy of Fallot, Abnorm... |
ORPHA:1926 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... |
ORPHA:3426 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... |
OMIM:613759 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar... |
OMIM:244400 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Primum atrial septal defect, Polys... |
OMIM:619608 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ... |
OMIM:613686 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At... |
OMIM:265380 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Patent ductus arteriosus, Dextrocardia, Micrognathia |
ORPHA:2863 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextro... |
OMIM:618280 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia, Mandib... |
OMIM:202650 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:250994 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Retrognathia, Interrupted aortic arch, Unilateral primary pulmonary dy... |
OMIM:192430 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micrognathia, Micromeli... |
ORPHA:99776 |
8P23.1 Microdeletion Syndrome |
|
Micrognathia, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, A... |
ORPHA:251071 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Absent gallbladder, Ventricular septal... |
OMIM:600001 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplasti... |
OMIM:300712 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Micrognathia, Secundum atrial septal defect, Pneu... |
ORPHA:2257 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
ORPHA:2255 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Anterior open-bite malocclusion, Perimembranous ventricular septal d... |
OMIM:617877 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Asplenia, Short th... |
OMIM:164280 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol... |
ORPHA:2306 |
Familial Visceral Myopathy |
|
Abdominal situs inversus, Micrognathia |
ORPHA:2604 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermi... |
ORPHA:8 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Hypoplas... |
ORPHA:1110 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Hyperplasia of the maxilla, Ventricular septal defect, Micrognathia |
OMIM:617616 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis |
ORPHA:306550 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus, Micrognathia |
ORPHA:2062 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... |
ORPHA:101028 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... |
OMIM:612561 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... |
ORPHA:991 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, Patent duc... |
ORPHA:391641 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy... |
OMIM:185070 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Sweeney-Cox Syndrome |
|
Micrognathia, Asplenia, Patent ductus arteriosus, Short clavicles, Patent foramen ovale, Short di... |
OMIM:617746 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Malar fla... |
ORPHA:1919 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Abnormal aortic morphology, Abnorma... |
ORPHA:1166 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Short hallux, Micrognathia, Sh... |
ORPHA:280 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Supernumerary tooth, Small hand, Short foot, Abdominal situs inversus,... |
ORPHA:2108 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Short fourth metatarsal, Dextrocardia |
OMIM:615994 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Pat... |
OMIM:601186 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Mandibular aplasia |
ORPHA:990 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Microretrognathia |
OMIM:614846 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Macrodontia of perman... |
OMIM:618067 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Venous malformation |
OMIM:176920 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, Abnormal lung lobation, Abnormal aortic morphology, Trun... |
ORPHA:2516 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... |
OMIM:620210 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia, Short stature |
ORPHA:1882 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm |
ORPHA:79094 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Intrac... |
ORPHA:163979 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Recurrent respiratory infections, Pa... |
ORPHA:17 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, ... |
OMIM:614034 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Phaver Syndrome |
|
Ventricular septal defect, Short thumb, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary ... |
ORPHA:2876 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
1Q21.1 Microdeletion Syndrome |
|
Short foot, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Abnormal lung lobation, Anomalous p... |
ORPHA:1120 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Micrognathia |
ORPHA:261120 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect... |
ORPHA:3304 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P... |
OMIM:619189 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... |
OMIM:264480 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
ORPHA:392 |
Renpenning Syndrome |
|
Mandibular prognathia, Heterotaxy, Malar flattening |
ORPHA:3242 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Spondylometaphyseal Dysplasia, Axial |
|
Restrictive ventilatory defect, Recurrent pneumonia, Reduced sperm motility |
OMIM:602271 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Short ribs, Preductal coarctation of the aorta, Malar flattening |
OMIM:215045 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short thumb, Abnormal heart morphology, Pulmonar... |
ORPHA:401935 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Incisor macrodontia, Coarctation of aorta |
OMIM:615502 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Missing ribs, Aortic valve stenosis, Hypoplastic left he... |
OMIM:220210 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Asthma, Abnormal respiratory system ... |
ORPHA:330015 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Small hand, Prem... |
OMIM:300845 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
ORPHA:290 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... |
ORPHA:90308 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prol... |
ORPHA:2396 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:179613 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, Abnormality of dental eruption, Retrognathia, Abnormal heart morpholo... |
ORPHA:96092 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Natal tooth, Malformation of the hepatic ductal plate, Micrognathia, Asplenia, ... |
OMIM:249000 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... |
OMIM:606003 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car... |
OMIM:614294 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... |
OMIM:241310 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Atrial se... |
OMIM:309500 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Respiratory insufficiency |
ORPHA:1237 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Micrognathia, Situs inversus totalis, Congenital hepatic f... |
ORPHA:564 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ... |
ORPHA:75508 |
Distal Triplication 15Q |
|
Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmo... |
ORPHA:314588 |
Digeorge Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Micrognathia, Thrombocytopenia, Patent ductus arter... |
OMIM:188400 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A... |
ORPHA:52056 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Interrupted aortic arch, Micrognathia |
OMIM:267000 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... |
OMIM:619769 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis... |
OMIM:616589 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Acute leu... |
ORPHA:3474 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Joubert Syndrome |
|
Situs inversus totalis |
ORPHA:475 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... |
ORPHA:33276 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Cari... |
ORPHA:96097 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Atria... |
OMIM:618142 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Bilatera... |
OMIM:618021 |
Isolated Cleft Lip |
|
Situs inversus totalis, Supernumerary maxillary incisor |
ORPHA:199302 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P... |
OMIM:608149 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia |
OMIM:615731 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:218350 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Micromelia, Patent ductus arteriosus,... |
ORPHA:1842 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defec... |
OMIM:618316 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, A... |
OMIM:614857 |
Fryns Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aorti... |
ORPHA:2059 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Abnormal anatomic ... |
ORPHA:2461 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency |
ORPHA:2119 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Bresek Syndrome |
|
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger |
OMIM:601355 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
Alg3-Cdg |
|
Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aortic arch |
ORPHA:79321 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Pulmonic stenosis, Atrial s... |
OMIM:619149 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Carious teeth, Patent ductus arteriosus, Dental malocclusio... |
OMIM:614976 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Micrognathia |
ORPHA:2001 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus |
ORPHA:171839 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Intrauterine growth retar... |
OMIM:610333 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Ac... |
OMIM:280000 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... |
ORPHA:1662 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:616222 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect |
OMIM:614876 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Microretrognathia, Patent foramen ovale, Hypoplastic spleen |
ORPHA:89844 |
Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Short thumb, Ventricular septal defect |
ORPHA:391646 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Micrognathia, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Micrognathia, Hypoplastic left atrium, Pulmonary hypoplasia, Retrognathia |
OMIM:615524 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects, ... |
OMIM:620070 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... |
OMIM:618494 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Pulmonary... |
OMIM:145420 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal... |
OMIM:614326 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... |
OMIM:619343 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Aplasia/Hypoplasi... |
ORPHA:1335 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Micrognathia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial s... |
ORPHA:261197 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... |
OMIM:617300 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:615668 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum mor... |
ORPHA:2315 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:615355 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis |
OMIM:240300 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
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 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Lymphangioma, Arteriovenous malformation |
ORPHA:137608 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:2970 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Ch... |
OMIM:614576 |
Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Abnormal cardiac septu... |
ORPHA:138 |
Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect |
ORPHA:3434 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Ventricular septal defect, Patent ... |
ORPHA:2962 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno... |
OMIM:614300 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Tru... |
OMIM:617516 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Muscular ve... |
OMIM:612474 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Cat Eye Syndrome |
|
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Biliary atresia... |
OMIM:115470 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia, Dextrocardia, Micrognathia |
OMIM:248700 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Patent ductus arteriosus, Ventricular septal defect, Micrognathia |
ORPHA:452 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy |
ORPHA:99868 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Left superior vena cava draining to coronary sinus, Limb undergrowth, Comm... |
OMIM:619143 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Mi... |
ORPHA:7 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Dental malocclu... |
OMIM:613680 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... |
OMIM:619909 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Short thumb, Patent ductus arteriosus, Abnormal lung morphology, Abnor... |
ORPHA:1708 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop... |
OMIM:616777 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial se... |
OMIM:620184 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Juxtaductal coarctation of the aorta, Pericarditis, Hypoplas... |
ORPHA:3310 |
Neurooculorenal Syndrome |
|
Dextrocardia, Short hallux, Micrognathia, Short 1st metacarpal, Mitral valve prolapse, Tetralogy ... |
OMIM:620305 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Short clavicles, Venous malformation |
ORPHA:60015 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Short clavicles, Short... |
OMIM:617159 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmoni... |
ORPHA:435638 |
Pseudoaminopterin Syndrome |
|
Micrognathia, Asplenia, Short thumb, Patent foramen ovale, Short 4th metacarpal |
ORPHA:221120 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Micrognathia |
OMIM:243440 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male |
ORPHA:2075 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Patent... |
OMIM:605275 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia, Dextrocardia, Micrognathia |
ORPHA:2437 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Micrognathia, Ascending aorta hypoplasia, Hepatic steatosis, Hemolytic ane... |
OMIM:619503 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Lissencephaly, Dandy-Walker malformation |
OMIM:612938 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Short palm, Hepatoblastoma, Atrial septal defect, ... |
OMIM:312870 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ... |
ORPHA:567 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... |
OMIM:300166 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Dou... |
OMIM:614886 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology |
ORPHA:2189 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Emanuel Syndrome |
|
Broad jaw, Recurrent respiratory infections, Ventricular septal defect, Delayed eruption of prima... |
OMIM:609029 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Patent ductus arteriosus, Short toe, Aortic root aneurysm, Atrial septal d... |
ORPHA:404443 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia, Malar flattening |
ORPHA:1296 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Bronchiolitis, Recurre... |
OMIM:230900 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati... |
OMIM:243800 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus,... |
ORPHA:899 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, Transposition of t... |
OMIM:256520 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Knobloch Syndrome |
|
Lymphangioma, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus, Micromelia, Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Patent ductus arteriosus, Muscular ventricular septal defect, Dental malocclusion,... |
ORPHA:363444 |
Lymphatic Malformation 6 |
|
Micrognathia, Splenomegaly, Varicose veins, Pleural effusion, Chylothorax, Atrial septal defect, ... |
OMIM:616843 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Ventricular septal defect, Micromelia, Patent ductus arteriosus, Atrial septal... |
OMIM:618870 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Retrognathia, Micrognathia, Abnormal heart morphology |
ORPHA:352490 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Micromelia |
ORPHA:2655 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:1647 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Carious teeth, Coarctation of aorta, Aortic r... |
OMIM:617602 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature |
OMIM:618174 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly |
OMIM:614969 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Abnormal heart morphology, Coarctation of aorta, Hypopla... |
ORPHA:2209 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot |
ORPHA:228399 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Abnormal lung lobation, Coarctation of aorta... |
OMIM:614114 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Hypoplasia of the thymus... |
OMIM:617022 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Micrognathia, Cholestasis, Reduc... |
ORPHA:52 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Micromelia, Patent ductu... |
ORPHA:2637 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Short 4th metacarpal |
OMIM:113301 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Ante... |
ORPHA:536545 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmo... |
OMIM:616866 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Micrognathia, Descending thorac... |
OMIM:609192 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Absent thumb, Patent ductus arteriosus, Abnormal lung... |
OMIM:300514 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral ... |
OMIM:121050 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Patent foramen... |
OMIM:251290 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Bronchogenic cyst |
ORPHA:2969 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Pulmonary artery stenosis, Patent ductus arteriosus, Pat... |
ORPHA:96167 |
Vater/Vacterl Association |
|
Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of th... |
OMIM:192350 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... |
ORPHA:60041 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Chylothorax, T... |
OMIM:153400 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur... |
OMIM:309520 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... |
OMIM:612562 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short 2nd toe, Atrial septal defect, Malar f... |
OMIM:612582 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Respiratory... |
OMIM:613153 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Down Syndrome |
|
Ventricular septal defect, Short middle phalanx of the 5th finger, Atrioventricular canal defect,... |
OMIM:190685 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Asthma, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... |
ORPHA:500055 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Malar flattening, Micrognathia |
ORPHA:93946 |
Trisomy 1Q |
|
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly |
ORPHA:261344 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Monosomy 18Q |
|
Mandibular prognathia, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic... |
ORPHA:1600 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Dental malocclusion, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Atrial septal def... |
OMIM:619356 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Atrial septal d... |
OMIM:300963 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... |
ORPHA:2256 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Dental malocclusion, Coarctation of aorta, Short 5th finger, Pulmonic ... |
OMIM:300867 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal sperm morphology, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF l... |
ORPHA:228123 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Situs inversus totalis, Small hand, Short 5th finger, Malar flattening |
ORPHA:1449 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal... |
ORPHA:163961 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micropenis, Hydrocephalus |
OMIM:241800 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Aspirat... |
OMIM:617053 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus, Respiratory insufficiency |
ORPHA:1914 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short ribs |
ORPHA:2519 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrognathia |
ORPHA:457193 |
Verheij Syndrome |
|
Short 5th finger, Truncus arteriosus, Retrognathia, Ventricular septal defect |
OMIM:615583 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr... |
ORPHA:84064 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Short stature |
ORPHA:1861 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Cardiomegaly, Intrahepatic cholestasis, Di... |
OMIM:614921 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Short metacarpal, Ventricular septal defect, Micrognathia |
ORPHA:166035 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Micrognathia |
OMIM:605321 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Hepatomegaly, Ventricular septal defect, Eosinoph... |
OMIM:616651 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux |
OMIM:620393 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... |
ORPHA:1667 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Atrial septal defect... |
ORPHA:3378 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Short thumb, Abnormality of frontal sinus, Atrial septal defect, Peripheral pulmona... |
ORPHA:436003 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Limb undergrowth, Neutropenia, Atrial septal defect, Recurrent lower re... |
OMIM:618005 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal veno... |
ORPHA:1900 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Retrogna... |
OMIM:617061 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Micrognathia, Varicose veins, Pulmonic stenosis, Aortic dissection, Retrognathia, Vascular dilata... |
OMIM:618343 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... |
OMIM:235510 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Mi... |
OMIM:620025 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Recurrent respiratory infections, Ventricular septal defect... |
ORPHA:96170 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pers... |
OMIM:619268 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... |
OMIM:142900 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Splen... |
OMIM:617303 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Micrognathia, Recurrent pneumonia, Bronchiectasis... |
OMIM:618282 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Pleur... |
OMIM:617397 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Micrognathia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral val... |
ORPHA:251066 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe |
ORPHA:1555 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Pneumonia, Chronic pulmonary obstruction, Olig... |
ORPHA:125 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency |
ORPHA:1865 |
Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Atrial septal defec... |
OMIM:617190 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Micrognathia, Hepatic melanin-like lysosomal pig... |
OMIM:208085 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:618506 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Atrial septal defect, Shor... |
OMIM:220500 |
H Syndrome |
|
Hydrocephalus, Bronchiectasis, Azoospermia, Hypogonadism, Chronic rhinitis, Micropenis, Decreased... |
ORPHA:168569 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Hepatoblast... |
ORPHA:96334 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Micrognathia, Short thumb, Short 5th finger, Patent foramen ovale |
OMIM:618821 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Micropenis, Hydrocephalus |
OMIM:619951 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... |
ORPHA:1677 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Bicuspid aortic valve |
OMIM:617751 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Irregular menstruation, Uterine leiomyoma, Re... |
OMIM:616482 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:261552 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Micrognathia |
OMIM:608572 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
OMIM:618950 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricu... |
OMIM:601808 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Tetraamelia |
OMIM:273395 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:261537 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial se... |
OMIM:180849 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Short distal phalanx of finger |
OMIM:611816 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Vaginal atresia |
ORPHA:3301 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Perimembranous ventricular sep... |
OMIM:158170 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Hypoplasia of the maxilla, Pulmonary... |
ORPHA:79345 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Short sternum, Pulmonary artery atresia, Ret... |
OMIM:620113 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia |
OMIM:619314 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... |
OMIM:300998 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Retrognathia, Micrognathia |
OMIM:617808 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Micrognathia, Atr... |
OMIM:619720 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Micrognathia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypoplasia... |
OMIM:613177 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Pancreatic lymph... |
OMIM:235255 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Malar flattening, Short toe |
ORPHA:921 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:2152 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Short femur, Ventricular septal defect, Micromelia, Short hallux, Complete atr... |
ORPHA:508488 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Hydrocephalus, Gray matter heterotopia, Pleural effusion, Lissen... |
OMIM:617822 |
Sotos Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular ... |
OMIM:117550 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Venous malformation |
ORPHA:168984 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia |
ORPHA:220493 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Micromelia, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal... |
ORPHA:1860 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ... |
OMIM:274000 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... |
OMIM:619472 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tricuspid valve m... |
ORPHA:485405 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Leukopenia, Pulmonic stenosis, Pulmonary artery atresia,... |
OMIM:301056 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Maxillozygomati... |
ORPHA:1790 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Malar flattening, Patent ductus arteriosus |
OMIM:602482 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Ogden Syndrome |
|
Microretrognathia, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Short metatarsal, Abnormal heart morphology, Atrial septal defect, Short d... |
ORPHA:217017 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition |
OMIM:125310 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, Thrombo... |
OMIM:603467 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Micrognathia,... |
OMIM:105650 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Atrial septal defect, Patent foramen ovale,... |
OMIM:614261 |
Tarp Syndrome |
|
Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Short sternum, Atrial septal defect,... |
OMIM:311900 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:2409 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... |
OMIM:614868 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... |
OMIM:611134 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Sex reversal, Mi... |
OMIM:612651 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
Opitz Gbbb Syndrome |
|
Natal tooth, Ventricular septal defect, Micrognathia, Patent foramen ovale, Patent ductus arterio... |
ORPHA:2745 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:293939 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Neutro... |
ORPHA:124 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Reticulocyt... |
OMIM:613309 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Retrognathia, Ventricular septal defect |
ORPHA:52055 |
Coach Syndrome 2 |
|
Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Small hand, Mitral valve prolapse, Right ve... |
OMIM:612863 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Recurrent pneumonia, Left superior vena cava dr... |
ORPHA:464738 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect, Micrognathia |
ORPHA:93267 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Hypoplasia of proximal radius, Short sternum, Pulmona... |
ORPHA:2886 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353281 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Shortening of all distal phalanges of the fingers, Peripheral pulmonary art... |
OMIM:614749 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
OMIM:300863 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Short thumb, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Retrognathia, Recurrent... |
OMIM:300472 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Ventricular s... |
ORPHA:261494 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Whipple Disease |
|
Hydrocephalus, Respiratory insufficiency, Erectile dysfunction, Cough |
ORPHA:3452 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Zaki Syndrome |
|
Patent ductus arteriosus, Hypoplasia of the phalanges of the toes, Patent foramen ovale, Microgna... |
OMIM:619648 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Weill-Marchesani Syndrome |
|
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter... |
ORPHA:163956 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Short distal phalanx of finger |
OMIM:616938 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly,... |
ORPHA:354 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Retrognathia, Ventricular septal defect |
OMIM:614815 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, S... |
ORPHA:2911 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Normochro... |
OMIM:610198 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Short ribs |
OMIM:615630 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Taurodontia, Pulmonic stenosis, Atrial septal defect, E... |
OMIM:618205 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Re... |
ORPHA:251061 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,... |
OMIM:257300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Cryptorchidism, Men... |
OMIM:236670 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Micrognathia, Small hand, Short foot, Short finger, Atrial septal defe... |
OMIM:270450 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Patent ductus arteriosus, Short toe, Small hand, Short middle phalanx of finger, Sh... |
OMIM:605130 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Micromelia |
ORPHA:1035 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly |
ORPHA:397709 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology |
ORPHA:3412 |
Fg Syndrome Type 1 |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Pulmonary arterial hypertension, Ventriculomegaly |
ORPHA:93932 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Ventricular septal defect, Micromelia, Micrognathia, Patent ductu... |
OMIM:211750 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Pancreatic lymphangiectasis, Splenomegaly,... |
ORPHA:1655 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Splenomegaly, Short t... |
OMIM:269860 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Malar flattening, Patent ductus arteriosus, Patellar hypoplasia |
ORPHA:261279 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Patent ductus arteriosus, Hypoplasia of the radius, Recur... |
OMIM:607143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... |
OMIM:609053 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Livedoid Vasculopathy |
|
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... |
ORPHA:542643 |
Oligomeganephronia |
|
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia |
ORPHA:2260 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Micrognathia, ... |
OMIM:620005 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preduct... |
OMIM:146510 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular carcinoma, Exocrine pancreatic ... |
OMIM:118450 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Ventricular septal defect, Micrognathia |
OMIM:617201 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:35107 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Patent ductus arteriosus, Coarctatio... |
OMIM:600268 |
Mosaic Trisomy 1 |
|
Microretrognathia, Hepatic agenesis, Ventricular septal defect, Coarctation of aorta, Pulmonary h... |
ORPHA:1692 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... |
ORPHA:2166 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:398156 |
Filippi Syndrome |
|
Ventricular septal defect, Serrated incisors |
OMIM:272440 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Malar flattening, Micrognathia |
ORPHA:79113 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale, Hypoplasia of teeth |
ORPHA:88630 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Small h... |
OMIM:610759 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut... |
OMIM:169400 |
Meige Disease |
|
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Giant Cell Arteritis |
|
Pericarditis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent pharyngitis, Vas... |
ORPHA:397 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short palm, Atrial septal defect, Ma... |
ORPHA:261330 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Cardiomegaly, Micrognathi... |
OMIM:245600 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Micrognathia |
ORPHA:363528 |
Robinow Syndrome |
|
Ventricular septal defect, Micrognathia, Persistence of primary teeth, Missing ribs, Mesomelic ar... |
ORPHA:97360 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Hydrocephalus, Disproportionate short-limb short stature, Neonatal... |
OMIM:187600 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Pulmonary artery stenosis, Fi... |
OMIM:258315 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Coarctation of aorta, Atrial septal defect |
OMIM:244450 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Mandibular prognathia |
OMIM:619721 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis, Absent thumb |
OMIM:619239 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Patent ductus arteriosus, Mesomelia, Atrial septal defect, Annular pancreas |
OMIM:618162 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Cervical ly... |
ORPHA:2331 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, R... |
ORPHA:1465 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finger,... |
OMIM:136140 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... |
ORPHA:276280 |
Mycophenolate Mofetil Embryopathy |
|
Short palm, Micrognathia, Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... |
ORPHA:391487 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Malar f... |
OMIM:130720 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Absent thumb, Absent radius, Sh... |
OMIM:607323 |
Alg9-Cdg |
|
Microretrognathia, Hepatomegaly, Ventricular septal defect, Rhizomelia, Micrognathia, Pericardial... |
ORPHA:79328 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Malar flatte... |
OMIM:616364 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Micrognathia, Cardiomegaly, Pleural effusion, Short ribs,... |
OMIM:616897 |
Rhombencephalosynapsis |
|
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly |
ORPHA:59315 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr... |
OMIM:249420 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Persistence of primary teeth, Hypoplasia of the maxilla, Shor... |
ORPHA:2044 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, P... |
OMIM:618223 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
ORPHA:163966 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Hydrocephalus... |
OMIM:608091 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... |
ORPHA:99104 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Upper airway obstruction, Hypoplastic labia majora, Vaginal atresia, Fused labia m... |
OMIM:207410 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... |
OMIM:609942 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Aplastic clavicle, Short thumb, Abnormality of the spleen, Abnormal lung lobation, ... |
ORPHA:2538 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Micrognathia |
OMIM:609625 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... |
OMIM:113000 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Retrognathia, Ventricular septal defect |
OMIM:617452 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Mosaic Variegated Aneuploidy Syndrome |
|
Micrognathia, Abnormal lung lobation, Coarctation of aorta, Acute lymphoblastic leukemia, Abnorma... |
ORPHA:1052 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353277 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Short ... |
OMIM:614609 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation |
OMIM:101800 |
Gabriele-De Vries Syndrome |
|
Malar flattening, Patent foramen ovale, Aortopulmonary collateral arteries, Micrognathia |
OMIM:617557 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Mandibular prognathia, Pulmonic stenosis |
OMIM:611553 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Rhizomelia, Cholangitis, Micrognathia, Splenomegaly, Patent ductus arteriosus, Recu... |
OMIM:613610 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Truncus arteriosus, Bic... |
ORPHA:508498 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections, Hyperplasia of the m... |
OMIM:620194 |
Charge Syndrome |
|
Atrial septal defect, Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Lympho... |
OMIM:214800 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect |
OMIM:245552 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowth, Aortic root aneurysm, L... |
ORPHA:96201 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Atrial septal defect, Tetral... |
OMIM:619869 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Jansen-De Vries Syndrome |
|
Short foot, Ventricular septal defect, Bicuspid aortic valve, Small hand |
OMIM:617450 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:1507 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619833 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins |
ORPHA:100991 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental enamel mo... |
ORPHA:1458 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... |
OMIM:258040 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Retrognathia, Ventricular septal defect |
ORPHA:505237 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Hyperplasia of the maxilla, Ventricular septal defect, Micrognathia |
ORPHA:513456 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Crouzon Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Retrognathia, Short middle phalanx of finge... |
OMIM:301030 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... |
OMIM:100300 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus |
OMIM:612284 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Micrognathia, Dental malocclusion, Mitral valve prolapse, Ascending tu... |
ORPHA:444072 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Abnormal heart morp... |
ORPHA:505248 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Denta... |
OMIM:616894 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Micrognathia, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Short distal ... |
OMIM:614080 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Desbuquois Syndrome |
|
Ventricular septal defect, Small hand |
ORPHA:1425 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left heart, Double... |
OMIM:301043 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia |
ORPHA:1834 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Pulmonic stenosis, Retrognathia, Patent foramen ovale |
OMIM:618914 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... |
OMIM:147791 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Micrognathia, Pericardial effusion, Prominent veins on trunk, Mitral val... |
ORPHA:536532 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegaly |
OMIM:614582 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Dental malocclusion, Pulmonic stenosis, Atrial septal defect, Hypertro... |
OMIM:610733 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Micrognathia |
OMIM:614526 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegal... |
OMIM:135500 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Recurrent respiratory infections |
OMIM:619383 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Renal Nutcracker Syndrome |
|
Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery |
ORPHA:71273 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Gray matter h... |
ORPHA:370959 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal d... |
OMIM:619418 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Re... |
ORPHA:96191 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs |
ORPHA:96190 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Short hallux, Short thumb, Shortening... |
OMIM:245150 |
Trisomy 17P |
|
Hypoplasia of penis, Hydrocephalus |
ORPHA:261290 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Khan-Khan-Katsanis Syndrome |
|
Patent ductus arteriosus after premature birth, Micrognathia, Bilateral superior vena cava with n... |
OMIM:618460 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Patent ductus arterios... |
ORPHA:3047 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardi... |
ORPHA:26793 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micrognathia, Absent thumb, Absent ra... |
OMIM:154400 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale |
OMIM:620075 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Pneumothorax, Ascending tubular aorta aneurysm, Atrial septal defect, Hy... |
OMIM:617403 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Patent ductus arteriosus, Small hand, Short foot, Atrial septal... |
OMIM:300968 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Promin... |
OMIM:123790 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... |
OMIM:309801 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Atrial septal defect, Left ventricu... |
ORPHA:79330 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... |
ORPHA:2072 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Distal Deletion 10Q |
|
Atrial septal defect, Patent ductus arteriosus, Short metatarsal, Micrognathia |
ORPHA:96148 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Proportionate shortening of all digits, Patent ductus arteriosus, Small hand, ... |
ORPHA:280633 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Micrognathia, Patent ductus arteriosus, Abnormal lung lobation, Upper limb undergrowth, Abnormal ... |
ORPHA:369837 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Ovarian neoplasm |
ORPHA:65285 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Micrognathia |
OMIM:616901 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypoplasia of the ulna, Micrognathia, Patent ductus a... |
ORPHA:84 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Stillbirth, Hydrocephalus |
OMIM:617667 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Small hand, Micrognathia |
ORPHA:459061 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia |
OMIM:610536 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:238769 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Malar flattening, Ventricular septal defect |
OMIM:614424 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Prostatitis |
ORPHA:1546 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Abnormality of the pancr... |
OMIM:222470 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Ventricular septal defect, Micrognathia |
ORPHA:3078 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Short metatarsal, Atrial septal defect, Malar flatte... |
OMIM:150250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Micrognathia, Mitral valve prolapse |
OMIM:300986 |
Alazami Syndrome |
|
Atrial septal defect, Malar flattening |
ORPHA:319671 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Amelia |
OMIM:601357 |
Achondroplasia |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hypoxemia, Restrictive ventilatory defect |
ORPHA:15 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Short palm |
ORPHA:254346 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Bdv Syndrome |
|
Atrial septal defect, Micrognathia |
OMIM:619326 |
Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect |
OMIM:615673 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Pulmonary hypoplasia, Short ribs |
OMIM:617895 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Asthma, Recurrent pneumonia, Hydrocephalus, Mild short statu... |
OMIM:309900 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Mi... |
OMIM:163950 |
Menkes Disease |
|
Micrognathia, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid ... |
ORPHA:565 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the ulna, Short metacarpal, Micrognathia, Aplasia/hypoplasia of the humerus, Short ... |
OMIM:609945 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Atrial se... |
ORPHA:96121 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... |
ORPHA:227990 |
Myhre Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Pericardial effusion, Hypoplasia of the maxilla... |
OMIM:139210 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Micrognathia, Short toe, Hyperec... |
OMIM:605039 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Micrognathia, Patent ductus a... |
OMIM:300373 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:616730 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... |
OMIM:219700 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Micrognathia, Short distal phalanx of the 5th finger... |
OMIM:620073 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Prominent superficial veins, Hypoplasia of the maxilla, Pneumothorax, Mitr... |
OMIM:617402 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Tetrasomy 5P |
|
Postnatal growth retardation, Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress |
ORPHA:3309 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Retrognathia, Ventricular septal defect, Recurrent pneumonia |
OMIM:616449 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:305450 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Micrognathia, Patent du... |
OMIM:214100 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Respiratory insufficiency, Abnormality of fem... |
ORPHA:235 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... |
ORPHA:227982 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Atrial septal defect, Advanced er... |
ORPHA:1519 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Coarctation of aorta, Short fo... |
OMIM:618454 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Rere-Related Neurodevelopmental Syndrome |
|
Micrognathia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Noonan Syndrome 13 |
|
Atrial septal defect, Micrognathia, Mitral valve prolapse |
OMIM:619087 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Apnea, Ventriculomegaly |
ORPHA:2462 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Carious teeth |
ORPHA:1051 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Micrognathia, Cario... |
OMIM:117650 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:272200 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Desmosterolosis |
|
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly |
OMIM:602398 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Pulmonic stenosis... |
OMIM:277600 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Malar fla... |
OMIM:606232 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jaundice, Cholestatic liver diseas... |
OMIM:613404 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Mesomelia, Patent foramen ovale |
OMIM:613457 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ... |
OMIM:619167 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Micrognathia, Patellar aplasia, Pulmonary hypoplasia, Short palm, Atri... |
ORPHA:85201 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Micrognathia |
ORPHA:1915 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Absent f... |
ORPHA:955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Lissencephaly, Agyria, Type II l... |
OMIM:615249 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Alg12-Cdg |
|
Recurrent respiratory infections, Micrognathia, Recurrent pharyngitis, Patent ductus arteriosus, ... |
ORPHA:79324 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Midclavicular hypoplasia,... |
ORPHA:79076 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Hypoplasia of the odo... |
OMIM:602535 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Polymicrogyria, Ventriculomegaly |
OMIM:616546 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus,... |
OMIM:608328 |
Cooper-Jabs Syndrome |
|
Malar flattening, Ventricular septal defect, Missing ribs |
ORPHA:1488 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Short foot, Short 5th finger, Atrial septal ... |
OMIM:257920 |
Al Kaissi Syndrome |
|
Atrial septal defect, Small hand |
OMIM:617694 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Microvesicular ... |
OMIM:300855 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitra... |
OMIM:617660 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:447980 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migrat... |
ORPHA:2162 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormality of the temporomandibular joint, Abnormal heart valve morpholog... |
ORPHA:536471 |
Degcags Syndrome |
|
Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hep... |
OMIM:619488 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Micropenis |
OMIM:610829 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Short palm, Atrial septal defect, Enamel hypoplasia, Patent foramen ovale |
OMIM:619184 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1340 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Retrognathia, Ventricular septal defect, Micrognathia |
OMIM:617164 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Vaginal atresia, Ventriculomegaly |
OMIM:101200 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Coa... |
OMIM:164210 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Micropenis, Hypergonadotropic hypogonadism, Hydrocephalus |
OMIM:227646 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... |
ORPHA:97214 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Micrognathia, Secundum atrial septal defect, Splenomegaly, Jaundice, Perimembranous... |
OMIM:608779 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620244 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphyse... |
ORPHA:538 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome... |
ORPHA:2322 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Micrognathia, Thrombocytopenia, Super... |
OMIM:619525 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Ventricular septal defect, Dilatation of the ventricula... |
ORPHA:459070 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Malar flattening, Abnormal mitral valve morphology, Short distal phalanx of... |
ORPHA:1292 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Hepatomegaly, Ventricular septal defect, Micromelia, Micrognathia, Short thumb... |
OMIM:270400 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Tachypnea, Apnea |
ORPHA:2318 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... |
ORPHA:79329 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... |
ORPHA:217085 |
Tenorio Syndrome |
|
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly |
OMIM:616260 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Patent ductus arteriosus, Dental maloccl... |
OMIM:618371 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:618348 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Male pseudohermaphrodit... |
ORPHA:2556 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Recurrent respiratory infections, Retrognathia, Short foot |
OMIM:619758 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short metacarpal, Short fourth metatarsal, Patent ductus arteriosus, Increased size of nasopharyn... |
ORPHA:457395 |
Apert Syndrome |
|
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Ovarian neoplasm |
ORPHA:87 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, ... |
OMIM:612289 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Limb Body Wall Complex |
|
Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia of the ... |
ORPHA:2369 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus |
OMIM:619512 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Atrial septal defect, Hepatic steatosis, Bicuspid aortic valve, Micrognathi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Hepatic steatosis, Bicuspid aortic valve, Micrognathi... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Hepatic steatosis, Bicuspid aortic valve, Micrognathi... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Atrial septal defect, Hepatic steatosis, Bicuspid aortic valve, Micrognathi... |
ORPHA:881 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tetralogy ... |
OMIM:613458 |
Hamamy Syndrome |
|
Micrognathia, Microcytic anemia, Complete atrioventricular canal defect, Dental malocclusion, Hyp... |
OMIM:611174 |
Craniopharyngioma |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:54595 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Abnormal dental enamel morphology, Patent ductus arteriosus, Aplasia/H... |
ORPHA:2092 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Rhizomelia, Micrognathia, Patent du... |
ORPHA:818 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism |
ORPHA:3042 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Micrognathia, Carious teeth, Patent ductus arteriosus, Small ha... |
ORPHA:177907 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Short femur, Micrognathia, Patent ductus arteriosus, Elliptocytosis, P... |
OMIM:300990 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Ventricular septal defect, Microm... |
OMIM:210710 |
Alexander Disease |
|
Precocious puberty, Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency |
ORPHA:58 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Micrognathia, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrhosis... |
OMIM:300868 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Short toe, Annular pan... |
ORPHA:2308 |
Radio-Tartaglia Syndrome |
|
Retrognathia, Ventricular septal defect, Micrognathia |
OMIM:619312 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... |
ORPHA:1199 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... |
OMIM:610505 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr... |
OMIM:614643 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Short ribs, Hypoplastic vertebral bodies, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Small hand, Short foot, Atr... |
OMIM:301044 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... |
OMIM:605627 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomeg... |
OMIM:614866 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618076 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Hydrocephalus, Growth delay, Respiratory failure, Stillbirth, Ventriculomegaly |
OMIM:259720 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Retrognathia, Ventricular septal defect |
ORPHA:217346 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Hand... |
ORPHA:1106 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:102500 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Short foot, Recu... |
OMIM:618268 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Recurrent sinusitis, Atrial se... |
OMIM:213980 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Airway obstruction |
OMIM:253220 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:612940 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia |
ORPHA:93259 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Monosomy 13Q34 |
|
Common atrium, Hepatic steatosis, Pulmonic stenosis, Micrognathia |
ORPHA:96168 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Trisomy 8P |
|
Cryptorchidism, Micropenis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Vici Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Micrognathia, Dilated cardiomyopathy, Decreased pr... |
OMIM:242840 |
Zellweger Syndrome |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Micrognathia |
ORPHA:912 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Short ribs, Atrial septal defect, Common atrium |
OMIM:225500 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Retrognathia, Thrombocytopenia |
ORPHA:457351 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Small hand, Fibular hypoplasia, Short foot, Short ribs, Short p... |
OMIM:228520 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... |
OMIM:600373 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Disproportionate shortening of the tibia, Hepatic... |
OMIM:263520 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Pulmonic ste... |
ORPHA:3071 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Splenomegaly, Dental malocclusion, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:115150 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Hypoplasia of the maxill... |
OMIM:617140 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Micrognathia, Patent ductus arteriosus... |
OMIM:615948 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
Pearson Syndrome |
|
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pulmonary hypoplasia, Ventricular septal defect, Short ribs |
OMIM:615503 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Dental malocclusion, Abnormal heart morphology,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Dental malocclusion, Abnormal heart morphology,... |
ORPHA:352665 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Carious teeth, Small hand, Short foot, Yell... |
OMIM:619229 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul... |
OMIM:134780 |
Costello Syndrome |
|
Ventricular septal defect, Micrognathia, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, ... |
OMIM:218040 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Hypoplasia of teeth |
ORPHA:2728 |
Achondroplasia |
|
Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Neonatal short-limb sh... |
OMIM:100800 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Stillbirth |
OMIM:208150 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice, Atrial septal defect... |
ORPHA:363611 |
Distal Deletion 6P |
|
Micrognathia, Short foot, Short palm, Atrial septal defect, Malar flattening |
ORPHA:96125 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, Respiratory insufficiency |
OMIM:620351 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Small hand, Fibular hypoplasia... |
ORPHA:444077 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Ovarian cyst, Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Recurrent respiratory infections, Ventricular septal de... |
OMIM:616268 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydroce... |
OMIM:219000 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Ventricular septal defect, Micrognathia, Autoimmune thrombocytopenia, Coarctati... |
OMIM:147920 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:261337 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature |
ORPHA:585 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Increased mean corpuscular volum... |
ORPHA:261250 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Annular pancreas, Patent foram... |
OMIM:616975 |
Meningioma |
|
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Hydrocephalus, Abnormal... |
ORPHA:2495 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature |
ORPHA:2720 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short... |
ORPHA:2438 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Ventricular septal defect, Malar flattening, Micrognathia |
ORPHA:2789 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Thrombocytope... |
ORPHA:261323 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Diamond-Blackfan Anemia 21 |
|
Micrognathia, Secundum atrial septal defect, Erythroid hypoplasia, Short toe, Thrombocytopenia, A... |
OMIM:620072 |
Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hydrocephalus |
OMIM:620155 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Pulmonary edema |
ORPHA:137675 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Short sternum, Short ribs, Atrial septal defect, Short tibia, Short 1st metacarpal,... |
OMIM:620076 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Short foot, Short palm, Atrial septal defect |
ORPHA:251014 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hypospadias, Hydrocephalus |
ORPHA:90652 |
Occipital Horn Syndrome |
|
Aplastic clavicle, Aplasia/hypoplasia of the humerus, Venous insufficiency, Jaundice, Hepatitis, ... |
ORPHA:198 |
Restrictive Dermopathy 1 |
|
Natal tooth, Micrognathia, Patent ductus arteriosus, Temporomandibular joint ankylosis, Short cla... |
OMIM:275210 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:607872 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Constricting Bands, Congenital |
|
Ectopia cordis |
OMIM:217100 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:2268 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus... |
ORPHA:363958 |
Distal Deletion 12Q |
|
Micrognathia, Supernumerary tooth, Patent ductus arteriosus, Biliary atresia, Congenital hypertro... |
ORPHA:96149 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Short stature, Apnea, Hydrocephalus, Cough |
ORPHA:579 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus |
ORPHA:168577 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, 11 pairs of ribs, Abnormal heart valve morphology, Abnormality of the splee... |
ORPHA:1606 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Shortening of all distal phalanges of the fingers... |
OMIM:616202 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale, Arteria lusoria |
OMIM:618653 |
Cohen Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Hypopl... |
ORPHA:193 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Absent frontal sinuses, Reduced alpha/beta synt... |
OMIM:301040 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Atrial ... |
ORPHA:904 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Ventricular septal defect, Short thumb, Pulmonary h... |
OMIM:229850 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect, Missing ribs, Vertebral hypoplasia |
OMIM:206900 |
Adams-Oliver Syndrome |
|
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:974 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventricular canal def... |
OMIM:617063 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Hydrocephalus, Aplasia of the uterus |
OMIM:614083 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... |
OMIM:235730 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Hydrocepha... |
OMIM:114290 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
Cockayne Syndrome A |
|
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Micropenis, ... |
OMIM:216400 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Short distal phalanx of finger, Micrognathia |
OMIM:250410 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Advanced ... |
ORPHA:769 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Micrognathia, Dental malocclusion, Small hand, Short foot |
ORPHA:251028 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Shortening of all distal phalanges of the fingers |
OMIM:614207 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration |
ORPHA:70 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Hydrocephalus, Respi... |
ORPHA:536467 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Sho... |
ORPHA:373 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Thrombocytopen... |
OMIM:227645 |
Trichothiodystrophy |
|
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Recurrent b... |
ORPHA:33364 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation |
OMIM:612301 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Poly... |
ORPHA:157 |
Donnai-Barrow Syndrome |
|
Short sternum, Malar flattening, Ventricular septal defect |
OMIM:222448 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ovarian fibroma, Ventriculomegaly |
ORPHA:77301 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Retrognathia, Ventricular septal defect |
OMIM:212066 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Ovarian cyst |
OMIM:311200 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Micrognathia,... |
OMIM:268300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Poly... |
ORPHA:228308 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:187300 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Ventricular septal defect, Aplasia/H... |
OMIM:135900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Short foot, Aortic valve stenosis |
ORPHA:464311 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:636 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Pulmonary arterial hypertension, Dandy-Walker mal... |
ORPHA:314585 |
Frontometaphyseal Dysplasia 2 |
|
Short metacarpal, Bicuspid aortic valve, Patent ductus arteriosus, Short metatarsal, Pulmonic ste... |
OMIM:617137 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
Mucopolysaccharidosis, Type Vi |
|
Short stature, Pneumonia, Hydrocephalus, Disproportionate short-trunk short stature, Restrictive ... |
OMIM:253200 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature |
OMIM:616007 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Respiratory ... |
OMIM:304120 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Ventricular septal defect, Abnormal dental enamel morphology, Short hallux... |
ORPHA:2710 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... |
ORPHA:96129 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Small hand, Short foot |
ORPHA:398069 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
Trisomy 18 |
|
Atrial septal defect, Microretrognathia, Ventricular septal defect |
ORPHA:3380 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Absent thumb, Hypoplasia... |
ORPHA:500150 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Recurrent respiratory infections, Aplasia of the thymus, Micrognathia, Carious teeth... |
OMIM:620186 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Hurler Syndrome |
|
Growth delay, Hydrocephalus, Rhinitis, Short stature |
ORPHA:93473 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola... |
ORPHA:363700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg... |
ORPHA:576 |
Peters-Plus Syndrome |
|
Short metacarpal, Ventricular septal defect, Rhizomelia, Bilobate gallbladder, Micrognathia, Hypo... |
OMIM:261540 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter heterotopia, Stil... |
OMIM:236680 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Abnormal paranasal sinus morphology... |
ORPHA:141099 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature |
ORPHA:220295 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... |
OMIM:271640 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Growth delay, Pulmonary arterial hyperte... |
ORPHA:79282 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus |
OMIM:619377 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth |
OMIM:243605 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Micrognathia, Dysplastic tricuspid valve, Abnormal mitral valve morpho... |
ORPHA:1724 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Cockayne Syndrome B |
|
Cryptorchidism, Micropenis, Normal pressure hydrocephalus |
OMIM:133540 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Hurler Syndrome |
|
Hydrocephalus, Short stature |
OMIM:607014 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Pneumonia, Micromelia, Micrognathia, Hypopl... |
OMIM:122470 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Hypospadias, Epistaxis, Cryptorchidism, Asthma, Mild fetal ventricul... |
OMIM:619841 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Short stature |
OMIM:259775 |
Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Acromesomelia |
ORPHA:464306 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Ventriculo... |
OMIM:194190 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Splenopancreatic fusion, Hypoplasia of first ribs, Short sternum, Atrial septal d... |
OMIM:269150 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... |
OMIM:107480 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lun... |
ORPHA:672 |
Oculodentodigital Dysplasia |
|
Carious teeth, Taurodontia, Atrial septal defect, Enamel hypoplasia, Short middle phalanx of the ... |
OMIM:164200 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... |
ORPHA:436252 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Patent ductus arteriosus, Ventricular septal defect, Supernumerary tooth |
ORPHA:434179 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, 11 pairs of ribs, Ventricular septal defect, Pulmonic stenosis, Limb under... |
ORPHA:488632 |
Peters Plus Syndrome |
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Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypoplasia, Spina ... |
ORPHA:709 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect |
OMIM:617798 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Carious teeth, Small hand, Mitral valve prolapse, Abnormal hear... |
OMIM:615873 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Carious teeth, Short thumb, Patent ductus arteriosus, Short foot, Shor... |
OMIM:619522 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Pneumonia, Cryptorchidism, Hydrocephalus, Long penis, Dandy-Walker malformation |
OMIM:264090 |
Focal Dermal Hypoplasia |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypoplasia, Spina bi... |
OMIM:305600 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Growth delay, Communicating hydrocephalus |
OMIM:616084 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Pancreatitis |
OMIM:619471 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Small hand |
OMIM:614947 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Ventricular septal defect, Small hand |
OMIM:609460 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea, Hydrocephalus |
OMIM:261740 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia |
ORPHA:506 |
Townes-Brocks Syndrome |
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Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Gitelman Syndrome |
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Pericardial effusion, Varicose veins, Iron deficiency anemia, Neoplasm of the pancreas |
ORPHA:358 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, Recurrent pne... |
ORPHA:99646 |
Faciocardiomelic Syndrome |
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Hyperplasia of the maxilla, Common atrium, Dental malocclusion, Micrognathia |
OMIM:612731 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Ventricula... |
OMIM:608670 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bifid scrotum, Hypospadias, Hydrocephalus, Micropenis, Decreased CSF 5-methyltetrahydrofolate con... |
OMIM:619475 |
Sotos Syndrome |
|
Ventricular septal defect, No permanent dentition, Patent ductus arteriosus, Small cell lung carc... |
ORPHA:821 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... |
ORPHA:1071 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Micropenis, Ventriculomegaly |
ORPHA:457359 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Semilobar Holoprosencephaly |
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Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... |
ORPHA:93924 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Hydrocephalus, Epistaxis |
ORPHA:137667 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Ventricular septal defect, Absent hand, Short distal phalanx of f... |
ORPHA:3138 |
Bartsocas-Papas Syndrome 1 |
|
Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short thumb, Abs... |
OMIM:263650 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Short metacarpal, Rhizomelia, Myocarditis, Short toe, Short ribs, Short finger,... |
OMIM:250220 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Mucopolysaccharidosis Type 3 |
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Hydrocephalus, Upper airway obstruction, Aspiration pneumonia, Ventriculomegaly |
ORPHA:581 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Patent ductus arteriosus, Small hand, Short foot, Cardiomyopathy,... |
ORPHA:480880 |
Yunis-Varon Syndrome |
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Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, Patent foramen ovale, Absent... |
OMIM:216340 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Hydrocephalus, Growth delay, Chronic rhinitis, Pulmonary arterial hypertension |
ORPHA:667 |
Coffin-Siris Syndrome 12 |
|
Short thumb, Tetralogy of Fallot, Patent foramen ovale, Micrognathia |
OMIM:619325 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
Alström Syndrome |
|
Respiratory distress, Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular f... |
ORPHA:64 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Micrognathia, Short femoral ne... |
OMIM:619127 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal defect, Aplasia o... |
OMIM:181450 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Pneumothorax, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal d... |
OMIM:601776 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection |
ORPHA:285 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Doors Syndrome |
|
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Thrombocytosis, Delayed eru... |
ORPHA:79500 |
Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... |
ORPHA:573278 |
Gaucher Disease |
|
Short stature, Hydrocephalus, Respiratory insufficiency, Delayed puberty, Pulmonary arterial hype... |
ORPHA:355 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Leukemia, Chylothorax |
ORPHA:2526 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1393 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta, Polymicrogyria |
OMIM:218600 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Ven... |
OMIM:143095 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Rhizomelia, Short stature, Hydrocephalus, Noncommunicating hydroce... |
ORPHA:666 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Wide penis, Polymicrog... |
ORPHA:3455 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Micrognathia |
OMIM:613884 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Okamoto Syndrome |
|
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... |
ORPHA:2729 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Cystinosis, Nephropathic |
|
Male infertility, Male hypogonadism |
OMIM:219800 |
Pallister-Killian Syndrome |
|
11 pairs of ribs, Delayed eruption of teeth, Ventricular septal defect, Rhizomelia, Mesomelic/rhi... |
OMIM:601803 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Supernumerary tooth, Abnormal hea... |
ORPHA:268261 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Micrognathia, Patellar aplasia, Pulmonary h... |
OMIM:606170 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Micromelia, Micrognathia, Small hand, Short... |
ORPHA:199 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Enamel hypoplasia, Mandibular prognathia |
OMIM:300896 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Malar flattening, Pulmonic stenosis |
OMIM:601321 |
Penile Agenesis |
|
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:49 |
Norrie Disease |
|
Venous insufficiency, Malar flattening |
ORPHA:649 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pneumonia |
ORPHA:309282 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Diphallia |
|
Atrial septal defect, Absent thumb, Abnormal heart morphology |
ORPHA:227 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Hydrocephalus, Pachygyria, Polymicrogyria, Type II lissencephaly |
OMIM:253280 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short palm |
OMIM:619727 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Short finger |
ORPHA:1934 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Recurrent pneumonia, Malar flattening, Recurren... |
OMIM:620330 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrial septal defect, Recurrent upper respiratory tract infections |
OMIM:308205 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |