Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... |
ORPHA:2516 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Prominent n... |
ORPHA:401935 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Microc... |
OMIM:601355 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Pa... |
OMIM:618164 |
Ritscher-Schinzel Syndrome 1 |
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Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Double outlet right ventricle, ... |
OMIM:220210 |
Holoprosencephaly 5 |
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Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diab... |
OMIM:609637 |
Emanuel Syndrome |
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Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Kypho... |
OMIM:609029 |
Thymic Aplasia With Fetal Death |
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Abnormality of the endocrine system, Truncus arteriosus, Stillbirth |
OMIM:274210 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Depressed nasal bridge, Double... |
ORPHA:3426 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Highly arched eyebrow, Ventricular septal defect, Depressed nasal bridge, Double outlet right ven... |
OMIM:618316 |
Microform Holoprosencephaly |
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Maternal diabetes, Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Iris coloboma, Tet... |
ORPHA:280200 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Perimembranous ventricular septal defect, Short nose, Pulmonic stenosis, Transposition of the gre... |
OMIM:617877 |
Johnson Neuroectodermal Syndrome |
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Ventricular septal defect, Sparse hair, Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, ... |
OMIM:147770 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Megalencephaly, Thick corpus callosum, Kyphosis, Pachyg... |
OMIM:603387 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching, Microcephaly |
OMIM:107500 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Patent ductus a... |
OMIM:179613 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Ventricular septal defect, Holoprosencephaly, Absent septum pellucidum, Coloboma, Sc... |
OMIM:601357 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Retinal coloboma, Abnormality of the optic disc, Iris ... |
ORPHA:508498 |
Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Convex nasal ridge, Laterally extended eyebrow, Perimembranous ventricular... |
OMIM:618804 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, W... |
ORPHA:1908 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Omphalocele, Tri... |
OMIM:264480 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Goiter, Situs inversus totalis, Chronic rhinitis, Right aortic arch, Hypothyroidism |
OMIM:617577 |
Distal Monosomy 13Q |
|
Optic atrophy, Anencephaly, Holoprosencephaly, Abnormal form of the vertebral bodies, Primary adr... |
ORPHA:1590 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Agenesis of corpus callosum, Kyphoscoliosis, Paten... |
ORPHA:96170 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Truncus arteriosus, Highly arched eyebrow |
OMIM:611867 |
Scimitar Syndrome |
|
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Patent... |
ORPHA:185 |
Microphthalmia, Syndromic 9 |
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Pulmonary artery atresia, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus,... |
OMIM:601186 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Bicuspid aortic valve, Vertebral fusion, Double outlet right ventricle, Patent ductus arteriosus,... |
OMIM:618845 |
Holoprosencephaly |
|
Omphalocele, Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving t... |
ORPHA:2162 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Hemivertebrae, Abnormal vertebral morphology, Holoprosencephaly, Paten... |
ORPHA:77298 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Atrioventricular canal defect, Breast aplasia, Tricuspid valve prolapse, ... |
ORPHA:276413 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Holoprosencephaly, Abnormal heart morphology, Thoracic hemivertebrae, Fused t... |
ORPHA:1445 |
Stankiewicz-Isidor Syndrome |
|
Prominent nose, Ventricular septal defect, Pineal cyst, Truncus arteriosus, Abnormality of the op... |
OMIM:617516 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Holoprosencephaly, Platyspondyly, Patent ductus arteriosus, Kyphosis, Atr... |
ORPHA:93274 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... |
OMIM:617478 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Posterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short nose... |
ORPHA:268261 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembranous ventricular sept... |
ORPHA:363444 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Butterfly vertebrae, Aplasia of the nose, Septo-optic dysplasia, Colpo... |
OMIM:301043 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypoplastic nasal tip, Persistent left superior vena cava, Double outlet right ventricle, Wide na... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly, Periventricular leukom... |
OMIM:619170 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Wide nasal ... |
ORPHA:2008 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Omphalocele, Mitral valve prolapse, Hirsutism, ... |
ORPHA:371428 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Maternal dia... |
ORPHA:860 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Asplenia, Situs inversus totalis, Stillbirth, Pu... |
OMIM:615415 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Optic atrophy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Trans... |
OMIM:253800 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Optic disc pallor, Ventricular hypertrophy, Short nose, Wide intermamillar... |
OMIM:300887 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Holoprosencephaly, Anteverted nares, Cryptorchidism, Vertebral segmentati... |
OMIM:612530 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Pulmonary artery atresia, Ventricular septal defect, Underdeveloped nasa... |
OMIM:192430 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Wide nose, Cleft ala nasi, Sparse pubic ... |
ORPHA:3044 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Ventricular septal defect, Vascular ring, Depressed nasal bridge, Broad nasal tip, P... |
OMIM:601927 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Vascular dilatation, Cerebral atrophy, Ant... |
OMIM:616430 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Optic atrophy, Hypoplastic nipples, Sparse hair, Hemiverteb... |
OMIM:308300 |
Distal Monosomy 7Q36 |
|
Optic atrophy, Holoprosencephaly, Short neck, Wide intermamillary distance, Bulbous nose, Cryptor... |
ORPHA:1636 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Hypothalamic hamartoma, Holopro... |
OMIM:146510 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Abnormality of the hairline, Double outlet right ventricle, Wide nasal bridge, Pa... |
OMIM:614886 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Hypertrichosis, Wide nose, Fused cervical vertebrae, Muscular ventricular se... |
OMIM:619227 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Pancreatic hypoplasia, Um... |
OMIM:600001 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Holoprosencephaly, Situs inversus totalis, Aplasia/Hypoplasia ... |
ORPHA:990 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Short nose, Transposition of the great arterie... |
ORPHA:1913 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Wide nose, Transpositi... |
ORPHA:1727 |
Benign Schwannoma |
|
Abnormality of the breast, Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal par... |
ORPHA:252164 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Kyphoscoliosis, Short nose, Per... |
OMIM:301040 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Total anosm... |
ORPHA:2326 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma,... |
ORPHA:284169 |
Triploidy |
|
Meningocele, Omphalocele, Holoprosencephaly, Iris coloboma, Aplasia/Hypoplasia of the corpus call... |
ORPHA:3376 |
3C Syndrome |
|
Aplasia/Hypoplasia of the nipples, Short nose, Iris coloboma, Adrenal hypoplasia, Hydrocephalus, ... |
ORPHA:7 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Microcephaly, Aplasia/Hypopl... |
ORPHA:2570 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia of the nose, Holoprosencephaly, Iris coloboma, Absent gallbladder, Tetralogy... |
ORPHA:3186 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arteriosus, Splenome... |
ORPHA:567 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Holoprosencephaly, Short nose, Atrial septal d... |
ORPHA:261236 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Highly arched eyebrow, Truncus arteriosus, ... |
ORPHA:261330 |
Alg12-Cdg |
|
Inverted nipples, Biventricular hypertrophy, Decreased serum insulin-like growth factor 1, Chroni... |
ORPHA:79324 |
Monosomy 18P |
|
Holoprosencephaly, Kyphoscoliosis, Alopecia, Wide nasal bridge, Wide intermamillary distance, Hyp... |
ORPHA:1598 |
Halperin-Birk Syndrome |
|
Optic atrophy, Umbilical hernia, Colpocephaly, Perimembranous ventricular septal defect, Long eye... |
OMIM:618651 |
Phaver Syndrome |
|
Ventricular septal defect, Butterfly vertebrae, Depressed nasal bridge, Myelomeningocele, Abnorma... |
ORPHA:2876 |
Barber-Say Syndrome |
|
Hypoplastic nipples, Breast aplasia, Wide nasal bridge, Bulbous nose, Generalized hirsutism, Spar... |
ORPHA:1231 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Low anterior hairline... |
OMIM:618223 |
14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Depressed nasal bridge, Sparse lateral eyebrow,... |
ORPHA:261120 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Hypoplastic nipples, Breast aplasia, Cryptorchidism, Absent axillary h... |
ORPHA:3138 |
Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Short nose, Wide nasal bridge, Abnormal cardiac septum morpholog... |
OMIM:615583 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Charge Syndrome |
|
Omphalocele, Arrhinencephaly, Dysplastic tricuspid valve, Retinal coloboma, Patent ductus arterio... |
OMIM:214800 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short neck, Short nose, Abnormal vertebral morphology |
ORPHA:2015 |
Solitary Median Maxillary Central Incisor |
|
Midnasal stenosis, Holoprosencephaly, Decreased response to growth hormone stimulation test, Cycl... |
OMIM:147250 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Absence of secondary sex characteristics, Increased circulating go... |
ORPHA:755 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Lobar holoprosencephaly, Hemivertebrae, Short nose, Wide nasal bridge, Ver... |
OMIM:614701 |
Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal sacrum morphology, Transposition ... |
ORPHA:1926 |
17Q21.31 Microduplication Syndrome |
|
Short nose, Thick eyebrow, Generalized hirsutism, Anteverted nares, Delayed puberty, Microcephaly... |
ORPHA:217340 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cardiac septum morphology |
ORPHA:2370 |
Acalvaria |
|
Holoprosencephaly, Omphalocele, Spina bifida, Hydrocephalus |
ORPHA:945 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Primary Ciliary Dyskinesia |
|
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... |
ORPHA:244 |
Scalp-Ear-Nipple Syndrome |
|
Fine hair, Depressed nasal bridge, Abnormal hair morphology, Aplasia/Hypoplasia of the nipples, S... |
OMIM:181270 |
Digeorge Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Umbilical hernia, Parathy... |
OMIM:188400 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge, Hypoplasia of the corpus callosum, Scoliosis, Inguinal hernia, M... |
OMIM:618379 |
Holoprosencephaly 2 |
|
Aplasia of the nose, Diabetes insipidus, Holoprosencephaly, Single ventricle, Proboscis, Anterior... |
OMIM:157170 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Thick eyebrow, Polysplenia, Agenesis of corpus callosum, Microcephaly, Synophrys |
OMIM:614226 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... |
ORPHA:1166 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Cranial nerve compression, Fused cervical vertebrae, Abnormality... |
ORPHA:268882 |
Alg3-Cdg |
|
Inverted nipples, Coarctation of the descending aortic arch, Neural tube defect, Cerebral white m... |
ORPHA:79321 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short nose, Patent ductus arteriosus, Bulbous nose, Polymicrogyria, Anteverted nares, Umbilical h... |
OMIM:618454 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
Jacobsen Syndrome |
|
Optic atrophy, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma, Annular... |
OMIM:147791 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Butterfly vertebrae, Agenesis of corpus callosum, Hirsutism, Double ou... |
OMIM:301056 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma |
OMIM:611638 |
Charge Syndrome |
|
Patent ductus arteriosus, Iris coloboma, Anterior hypopituitarism, Choanal atresia, Anosmia, Inte... |
ORPHA:138 |
Monosomy 18Q |
|
Patent ductus arteriosus, Bulbous nose, Hydrocephalus, Aortic valve stenosis, Left aortic arch wi... |
ORPHA:1600 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Inverted nipples, Holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Microcephaly |
OMIM:610680 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Absent gallbladder, Polym... |
OMIM:156810 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Short nose, Cervical vertebral dysplasia,... |
ORPHA:79345 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Dry hair, Low anterior hairline, Wide nasal bridge, Hypothyroidism, M... |
OMIM:618569 |
Lambotte Syndrome |
|
Ventricular septal defect, Convex nasal ridge, Semilobar holoprosencephaly, Microcephaly |
OMIM:245552 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Highly arched eyebrow, Dysplastic corpus callosum, Coronal cleft vertebrae... |
OMIM:616854 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Highly arched eyebrow, Chorioretinal coloboma, Short nose, Wide nasal brid... |
OMIM:243310 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Ventricular septal defect, Hypoplastic nipples, Anencephaly, Holoprosencephaly, Neon... |
OMIM:269860 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Short nos... |
ORPHA:251071 |
Fryns Syndrome |
|
Omphalocele, Abnormal aortic arch morphology, Abnormal aortic morphology, Aganglionic megacolon, ... |
ORPHA:2059 |
Hypohidrotic Ectodermal Dysplasia |
|
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Slow-growing hair, An... |
ORPHA:238468 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Abnormal coronary artery morphology, Coarctation o... |
ORPHA:980 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Short columella, Short nose, Patent ductus arteriosus, Abnormality of the... |
ORPHA:171839 |
X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Low hanging colu... |
ORPHA:163956 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Short nose, Iris coloboma, Wide a... |
ORPHA:2143 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Depressed nasal bridge, Short nose, Cryptorchidism, Scoliosis, Microcephaly |
ORPHA:1695 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge, Wi... |
OMIM:616920 |
Congenital Gerbode Defect |
|
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... |
ORPHA:99095 |
Hadziselimovic Syndrome |
|
Ventricular septal defect, Low anterior hairline, Ventricular hypertrophy, Prominent nasal bridge... |
OMIM:612946 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Short nose, Cyclopia, Iri... |
ORPHA:3380 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Anterior pituitary hypoplasia, Abnormality of secondary sexual hair, De... |
ORPHA:95494 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Optic atrophy, Ventricular septal defect, Depressed nasal bridge, Wide nose, Short nose, Patent d... |
OMIM:613457 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... |
OMIM:618961 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Convex nasal ridge, Prominent nasal bridge, Overriding aorta, Ar... |
ORPHA:1110 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hirsutism, Thyroid hypoplasia, Mitral atresia, Short nose, Subvalvular aortic stenosis, Hepatospl... |
OMIM:619503 |
Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
Phace Syndrome |
|
Ectopic thyroid, Lens coloboma, Abnormal heart morphology, Aortic root aneurysm, Coarctation of a... |
ORPHA:42775 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Optic atrophy, Bilateral cryptorchidism, Hypothyroidism, Bilateral basal ... |
ORPHA:66634 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonary artery... |
OMIM:208530 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Situs inversus totalis, Agenesis of corpus callosum |
OMIM:202650 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Coarctation of aorta, ... |
ORPHA:280195 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
Pierpont Syndrome |
|
Broad nasal tip, Hypoplastic areola, Wide nose, Short nose, Wide intermamillary distance, Cryptor... |
OMIM:602342 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Colpocephaly, Short nose... |
OMIM:618619 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Conotruncal defect, Agenesis of corpus callosum, Coarctation of aorta, Sho... |
ORPHA:96147 |
Steinfeld Syndrome |
|
Abnormality of the vertebral column, Aplasia of the nose, Retinal coloboma, Abnormal vertebral mo... |
OMIM:184705 |
Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Short nose, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... |
ORPHA:1200 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Omphalocele, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet rig... |
OMIM:306955 |
Gapo Syndrome |
|
Optic atrophy, Sparse eyelashes, Depressed nasal bridge, Hypoplastic nipples, Sparse hair, Alopec... |
OMIM:230740 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... |
OMIM:619371 |
Proteus Syndrome |
|
Spinal canal stenosis, Depressed nasal bridge, Kyphoscoliosis, Lymphangioma, Splenomegaly, Venous... |
OMIM:176920 |
Moebius Syndrome |
|
Breast aplasia, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Facial palsy |
ORPHA:570 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the anterior pituitary, Posteri... |
ORPHA:75389 |
Congenital Disorder Of Glycosylation, Type Il |
|
Inverted nipples, Depressed nasal bridge, Pericardial effusion, Short nose, Kyphosis, Wide interm... |
OMIM:608776 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Macroorchidism |
OMIM:300706 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... |
ORPHA:449400 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Prominent nose, Depressed nasal bridge, Hypertrichosis, Wide nasal br... |
OMIM:300968 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Lo... |
OMIM:218000 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... |
ORPHA:216694 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Abnormality of the autonomic nervous system, Pulmonic s... |
OMIM:611376 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Highly arched eyebrow, Narrow nose, Aplasia/Hypoplasia of ... |
ORPHA:261311 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
Femoral-Facial Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Maternal diabetes, Truncus arteriosus, Hemi... |
OMIM:134780 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Arrhinencephaly, Thyroid hypoplasia, Short nose, Recurrent upper and lo... |
ORPHA:672 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... |
ORPHA:95430 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Abnormal intervertebral disk morphology, Short nose, Sparse scalp ha... |
ORPHA:2701 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Decreased testicular size, Agenesis of corpus callosum |
OMIM:615433 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormality of the vertebral column, Tetralogy of Fallot, Agenesis of corpus callosum, Abnormal v... |
OMIM:250620 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Long eyelashes, Wide nasal bridge, Hydrocephalus, Anteverted nares, Cryptorchidism, H... |
OMIM:618577 |
Peho-Like Syndrome |
|
Optic atrophy, Short nose, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callosu... |
OMIM:617507 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Hypertrichosis, Low anterior hairline, Kyphoscoliosis, Short nose, Wide intermamil... |
OMIM:614222 |
Smith-Lemli-Opitz Syndrome |
|
Gastroschisis, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Iris coloboma, Ap... |
ORPHA:818 |
8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Adrenal insufficiency, Wide nose, Pulmonic sten... |
ORPHA:251076 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Hypointensity of cerebral white matter on MRI, Short nose, Microcephaly |
ORPHA:46 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Short nose, Prominent nasal bridge, Patent duct... |
OMIM:613870 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Thyroid hypoplasia, Holoprosencephaly, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2166 |
Miller-Dieker Syndrome |
|
Omphalocele, Short nose, Lissencephaly, Sacral dimple, Anteverted nares, Hypoplasia of the corpus... |
ORPHA:531 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... |
OMIM:155050 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... |
OMIM:270100 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Ventricular septal defect, Broad nasal tip, Mitral valv... |
OMIM:249420 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology |
ORPHA:90153 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Highly arched eyebrow, Kyphoscoliosis, Short nose, Long eyelashes, Wid... |
OMIM:615803 |
Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Ventricular septal defect, Right ventricular hypertrophy, Wide nose, Short nose, P... |
OMIM:614261 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Holoprosencephaly 7 |
|
Omphalocele, Short nose, Iris coloboma, Flat nasal alae, Depressed nasal tip, Panhypopituitarism,... |
OMIM:610828 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Sparse eyelashes, Depressed nasal bridge, Short nose, Sparse eyebrow, Kyphosis, Sc... |
OMIM:617988 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
49,Xxxxy Syndrome |
|
Depressed nasal ridge, Arrhinencephaly, Gynecomastia, Depressed nasal bridge, Type II diabetes me... |
ORPHA:96264 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Kyphosis, Thick eyebrow, Microcephaly, Synophrys |
OMIM:617061 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Tricuspid atresia, Tricuspid stenosis, Abnormal heart morphology, Multip... |
ORPHA:391641 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Mosaic Variegated Aneuploidy Syndrome |
|
Depressed nasal ridge, Abnormal aortic morphology, Holoprosencephaly, Wide nose, Coarctation of a... |
ORPHA:1052 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Kyphosis, Distichiasis, Scoliosis, Delayed puberty, Microcephaly |
ORPHA:2598 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose, Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys |
ORPHA:2429 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares, Short neck, Microcephaly |
ORPHA:1832 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Dysplastic sacrum, Wide nose, Short nose, Cardiomegaly, Severe platyspond... |
OMIM:613320 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Agenesis of corpus callosum, Wide nasal bridge, Patent ductus arteriosus... |
ORPHA:250989 |
Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Hypothalamic hamartoma, Abnormal heart morphology, Short nose, Hydrocepha... |
OMIM:241800 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Narrow nose, Long nose, Short nose, Coarctation of aorta, Atrial septa... |
OMIM:617602 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Depressed nasal bridge, Lobar holoprosencephaly |
ORPHA:2117 |
Acromicric Dysplasia |
|
Short nose, Long eyelashes, Decreased nerve conduction velocity, Abnormal eyebrow morphology, Ovo... |
ORPHA:969 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary hypoplasia, Hydrocepha... |
OMIM:619534 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short nose, Ventricular septal defect, Atrial septal defect, Bulbous nose |
OMIM:613458 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Optic atrophy, Pericarditis, Mediastinal lymphadeno... |
ORPHA:397 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose, Short neck, Hypoplasia of the corpus callosum, Inguinal hernia |
ORPHA:217385 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Patent ductus arteriosus, Iris coloboma, Remnants of the hyaloid vascular ... |
OMIM:300166 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Short columella, Wide nasal bridge, Bifid nose, Pericallosal lipoma, Tetralogy o... |
OMIM:136760 |
Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level |
OMIM:125700 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Narrow nasal tip, Ventricular septal defect, Optic disc pallor, Prominent nasal bridge, Patent du... |
ORPHA:464306 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Atrioventricular canal defect, Coarctation of aorta, Short nose, Short nasal ... |
ORPHA:2409 |
Rhiny |
|
Anteverted nares, Short nose, Inguinal hernia |
OMIM:180360 |
Muscle-Eye-Brain Disease |
|
Meningocele, Optic atrophy, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Limb-Mammary Syndrome |
|
Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilateral breast hypoplasia,... |
ORPHA:69085 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Truncus arteriosus, Retinal coloboma, Patent ductus arteriosus, Anteverted nares,... |
ORPHA:508488 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Prominent nasal tip, Ventricular septal defect, Pineal cyst, Depressed nasal bridge, Sparse later... |
ORPHA:513456 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Holoprosencephaly, Hypergonad... |
ORPHA:250999 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Short nose, Slender nose, Cryptorchidis... |
OMIM:615419 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Depressed nasal ridge, Hypopigmentation of hair, Short nose |
ORPHA:1355 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Short columella, Patchy distortion of vertebrae, S... |
ORPHA:1248 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Low posteri... |
OMIM:617506 |
Mental Retardation, X-Linked 91 |
|
Low posterior hairline, Short nose |
OMIM:300577 |
Hypoplastic Left Heart Syndrome |
|
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... |
ORPHA:2248 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Scoliosis |
OMIM:618218 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Coarctation o... |
ORPHA:261494 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Depressed nasal bridge, Short nose, Long eyelashes, Patent du... |
ORPHA:1272 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Ventricular septal defect, Aganglionic megacolon, Depressed nasa... |
OMIM:270400 |
Codas Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Coronal cleft vertebrae, Short nose, Abnormal ... |
ORPHA:1458 |
Proboscis Lateralis |
|
Ventricular septal defect, Chorioretinal coloboma, Holoprosencephaly, Optic nerve hypoplasia, Cyc... |
ORPHA:141099 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Partial agenesis... |
OMIM:222448 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Omphalocele, Dysplastic tricuspid valve, Neonatal death, Patent ductus art... |
OMIM:265380 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Abnormality of the spleen, Arrhinencephaly, Truncus arteriosus, Absen... |
ORPHA:2538 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Retinal coloboma, Patent ductus arteriosus... |
ORPHA:2328 |
De Barsy Syndrome |
|
Ventricular septal defect, Umbilical hernia, Persistent left superior vena cava, Kyphoscoliosis, ... |
ORPHA:2962 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Porencephalic cyst, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Optic disc pallor, Short nose, Wide nasal bridge, Cardiomyopathy, Frontal cortical... |
OMIM:618437 |
Hypertelorism And Tetralogy Of Fallot |
|
Depressed nasal bridge, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with a... |
OMIM:239711 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Short nose, Scoliosis |
OMIM:617183 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Cyclopia, Abnormality of the diencephalon, Microcephaly |
ORPHA:2165 |
Isolated Exencephaly |
|
Maternal diabetes, Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Anter... |
ORPHA:563612 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Sparse eyelashes, Optic atrop... |
OMIM:234050 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Spinal canal stenosis, Decreased response to grow... |
OMIM:618624 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Short nose, Abnormal... |
ORPHA:457279 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Optic atrophy, Facial hirsutism, Short nose, Wide nasal bridge, Low ... |
OMIM:619383 |
Distal Tetrasomy 15Q |
|
Abnormal heart morphology, Patent ductus arteriosus, Kyphosis, Atrial septal defect, Hydrocephalu... |
ORPHA:314588 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Holoprosencephaly, Short columella, Proboscis, Abnormality of the nose, C... |
OMIM:142945 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Transposition of the great arteries, Bulbous nose, Cryptorchidism, Colobo... |
OMIM:616789 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Progressive microcephaly, Short nose, Depressed nasal bridge |
ORPHA:438178 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Pancreatic hypoplasia, Perimembranous ventricular septal defect, Coars... |
ORPHA:83617 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Low anterior hairline, Abnormal heart morpholo... |
ORPHA:369891 |
Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Optic atrophy, Depressed nasal bridge, Polysplenia, Paten... |
OMIM:201000 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Short nose, Platyspondyly, Patent ductus arteriosus, Scoliosis |
ORPHA:166272 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Wide nose, Short nose, Recurrent upper respiratory tract infections, Anteverted nares, Short neck... |
OMIM:300209 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:614069 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Tortuous cerebral arter... |
OMIM:619472 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Prominent eyelashes, Short nose, Wide nasal bridge, Prominent nasal b... |
OMIM:619179 |
Coffin-Siris Syndrome |
|
Hirsutism, Prominent eyelashes, Short nose, Papillary thyroid carcinoma, Patent ductus arteriosus... |
ORPHA:1465 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Short neck, Hepatosplenomegaly |
ORPHA:221054 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Depressed nasal bridge, Short nose... |
OMIM:145420 |
Ring Chromosome 12 Syndrome |
|
Hirsutism, Dystrophic toenail, Hypothyroidism, Cryptorchidism, Secundum atrial septal defect, Bre... |
ORPHA:1439 |
Arachnoid Cyst |
|
Holoprosencephaly, Sciatica, Abnormality of the endocrine system, Cranial nerve compression, Post... |
ORPHA:2356 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Short nose, Abnormal cerebral white matter morphology, Anteverted nares, ... |
OMIM:613443 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Depressed nasal bridge, Myelomeningocele, Punctate vertebral calcifications, Short... |
ORPHA:1914 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Optic disc pallor, Lobar holoprosencephaly, Sacrococcygeal pilon... |
ORPHA:468631 |
Ear-Patella-Short Stature Syndrome |
|
Breast aplasia, Cryptorchidism, Microcephaly |
ORPHA:2554 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Short nose, Cardiomyopathy, Patent ductus arteriosus, Wide anterior fonta... |
OMIM:217980 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Cerebral white matter atrophy, Short nose, Secondary microcephaly, Scoliosis |
OMIM:615042 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Inguinal hernia, Abnormal hair whorl, Hydrocephalus, Anteverted nares, Hy... |
ORPHA:457284 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... |
ORPHA:97289 |
Stickler Syndrome Type 1 |
|
Short nose, Mitral valve prolapse, Platyspondyly, Abnormality of vertebral epiphysis morphology |
ORPHA:90653 |
Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Wide nasal bridge, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callos... |
OMIM:612651 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Ventricular septal defect, Narrow nose, Hirsutism, Low anterior hairline, ... |
OMIM:301044 |
Jacobsen Syndrome |
|
Ventricular septal defect, Agenesis of corpus callosum, Annular pancreas, Coarctation of aorta, A... |
ORPHA:2308 |
Marshall-Smith Syndrome |
|
Omphalocele, Cerebral atrophy, Depressed nasal bridge, Umbilical hernia, Short nose, Patent ductu... |
OMIM:602535 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Omphalocele, Dysplastic corpus callosum, Streak ovary, Colpocephaly, H... |
OMIM:618820 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Hemivertebrae, Cervical C2/C3 vertebral f... |
ORPHA:1780 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Umbilical hernia, Short nose, Short neck, Inguinal hernia |
OMIM:613544 |
Facial Dysmorphism With Multiple Malformations |
|
Ventricular septal defect, Hemivertebrae, Short nose, Wide nasal bridge, Transposition of the gre... |
OMIM:227255 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Depressed nasal bridge, Wafer-thin platyspondyly, Sparse hair, Ventricular hypertrophy, Short nos... |
OMIM:602613 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Low posterior hairline, Short nose |
ORPHA:1450 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Sparse eyelashes, Short nose, Patent ductus arteriosus, Low posterior hairline, Sparse and thin e... |
OMIM:213980 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Depressed nasal bridge, Short nose, Coarctation of aorta, Subvalvular ... |
OMIM:614114 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Pulmonary artery atresia, Omphalocele, Ventricular septal defect, Depressed nasal bridge, Short n... |
OMIM:616894 |
Intellectual Disability-Strabismus Syndrome |
|
Prominent nose, Highly arched eyebrow, Depressed nasal bridge, Decreased serum insulin-like growt... |
ORPHA:363528 |
Craniofrontonasal Syndrome |
|
Widow's peak, Hypoplastic nasal tip, Umbilical hernia, Wide nasal bridge, Unilateral breast hypop... |
OMIM:304110 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Inverted nipples, Depressed nasal bridge, Restrictive cardiomyopathy, Short nose, Patent ductus a... |
OMIM:615398 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Depressed nasal ridge, Abnormality of secondary sexual hair, Decreased ... |
ORPHA:90695 |
Pituicytoma |
|
Galactorrhea, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Hy... |
ORPHA:251623 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Kyphoscoliosis, Short nose, Sacral dimple, Anteverted nares, Cryptorchidi... |
OMIM:616331 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Microcephaly, Hypoplastic vertebral bodies |
ORPHA:2163 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Long eyelashes, Abnormal hair pattern, Thick hair, Narrow nasal bridge, Thick eyebrow... |
ORPHA:1514 |
Distal Trisomy 18Q |
|
Short nose, Progressive intervertebral space narrowing, Prominent nasal bridge, Abnormal hair pat... |
ORPHA:1716 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Highly arched eyebrow, Depressed nasal bridge, Short nose, Abnormal form of the vertebral bodies,... |
ORPHA:1327 |
Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... |
ORPHA:3400 |
C Syndrome |
|
Omphalocele, Ventricular septal defect, Short nose, Wide nasal bridge, Patent ductus arteriosus, ... |
OMIM:211750 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Iris coloboma, Optic... |
ORPHA:52055 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Omphalocele, Tricuspid stenosis, Abnormal coronary artery origin, Mitral s... |
ORPHA:1686 |
Ververi-Brady Syndrome |
|
Prominent nose, Broad nasal tip, Wide nose, Transposition of the great arteries, Bulbous nose, Sc... |
OMIM:617982 |
Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Retinal coloboma, Holoprosencephaly, Patent ductus arteriosus, Aplasia... |
OMIM:615948 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Depressed nasal bridge, Low anterior hairline, Optic nerve hypoplasia, Sho... |
OMIM:618828 |
Ohdo Syndrome |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Sparse and thin eyebrow,... |
OMIM:249620 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... |
ORPHA:496790 |
Iniencephaly |
|
Omphalocele, Anencephaly, Myelomeningocele, Holoprosencephaly, Gastroschisis, Lissencephaly, Spin... |
ORPHA:63259 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Depressed nasal bridge, Holo... |
OMIM:610829 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... |
OMIM:132900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Pancreatic hypoplasia, Congenital hypothyroid... |
ORPHA:2255 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Hypoplastic nipples, Hepatosplenomegaly, Anteverted nares, Pulmonary artery stenosis... |
ORPHA:96334 |
Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Aplasia/Hypoplasia of the nipples, Sparse hair, Type I diabetes mellitus |
ORPHA:2036 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... |
ORPHA:91355 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Abnormal aortic morphology, Cerebral calcification, Abnormal eyelash mor... |
ORPHA:2396 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Sparse hair, Low anterior hairline, Kyphoscoliosis, Short nose, Wide nose, Primary mic... |
ORPHA:391408 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypothalamic ham... |
OMIM:206900 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Optic disc pallor, Depressed nasal bridge, Sparse hair, Short nose, Co... |
OMIM:244450 |
Becker Nevus Syndrome |
|
Scoliosis, Unilateral breast hypoplasia, Hemivertebrae |
OMIM:604919 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Underdeveloped nasal alae, Aganglionic megacolon, Abnormal hair morphology, White ha... |
ORPHA:894 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Omphalocele, Broad nasal tip, Short nose, Long eyelashes, Wide nasal bridg... |
OMIM:618529 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Hypoplasia of the corpus callosum, Short nose, Optic atrophy, Microcephaly |
ORPHA:1495 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Sparse and thin eyebrow, Primary gonadal insufficiency, Breast hypoplasia, Abs... |
ORPHA:2232 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Short nose, Long eyelashes, Progressive microcephaly, Hypoplasia of the c... |
OMIM:617802 |
Achondrogenesis |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck, Inguinal hernia |
ORPHA:932 |
9q subtelomeric deletion syndrome |
|
Abnormal heart morphology, Short nose, Anteverted nares, Microcephaly, Synophrys |
DECIPHER:52 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral valve prolapse, Short nose, Cerebral atrophy, Patent foramen ovale, Inguinal hernia |
OMIM:615539 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Short nose, Wide nasal bridge, Hyperinsulinemia, Anteverted nares, ... |
ORPHA:2849 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Abnormal heart morphology, Short nose, Prominent nasolabial fold, Recurrent uppe... |
ORPHA:391372 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Depressed nasal bridge, Coarse hair, Platyspondyly, Ovoid vertebral bodies, Arterioscl... |
OMIM:242900 |
Trisomy 20P |
|
Abnormal form of the vertebral bodies, Short nose, Anteverted nares, Low posterior hairline, Vert... |
ORPHA:261318 |
Desmosterolosis |
|
Abnormal cortical gyration, Depressed nasal bridge, Short nose, Patent ductus arteriosus, Abnorma... |
ORPHA:35107 |
Rubinstein-Taybi Syndrome 1 |
|
Hirsutism, Patent ductus arteriosus, Abnormality of the nasal septum, Low hanging columella, Colo... |
OMIM:180849 |
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation |
|
Depressed nasal bridge, Short nose, Long eyelashes, Breast hypoplasia, Cerebral atrophy, Cryptorc... |
OMIM:601353 |
Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous fistula, Abnormal heart morphology, Abnormality of the lymphatic system, Epistaxis,... |
ORPHA:137667 |
Distal Monosomy 10Q |
|
Widow's peak, Prominent nose, Facial diplegia, Short nose, Wide nasal bridge, Patent ductus arter... |
ORPHA:96148 |
Micro Syndrome |
|
Optic atrophy, Retinal coloboma, Short nose, Wide nasal bridge, Kyphosis, Delayed puberty, Pachyg... |
ORPHA:2510 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... |
ORPHA:392 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short nose, Cardiomegaly, Platyspondyly, ... |
OMIM:616897 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Abnormal sacrum morphology, Short nose, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:1988 |
Familial Multiple Nevi Flammei |
|
Abnormal cranial nerve morphology, Venous insufficiency, Cerebral calcification, Scoliosis, Arter... |
ORPHA:624 |
Timothy Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent ductus arteriosus, Tetral... |
OMIM:601005 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Double outlet right ventricle, Atrial septal defect, Hypothyroidism, Neon... |
ORPHA:1667 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Abnormality of the vertebral column, Depressed nasal bridge, Short nose, Hypogonadism, Short nasa... |
OMIM:302950 |
Van Esch-O'Driscoll Syndrome |
|
Cerebral atrophy, Ventricular septal defect, Increased circulating gonadotropin level, Atrial sep... |
OMIM:301030 |
Robinow Syndrome |
|
Ventricular septal defect, Broad nasal tip, Tricuspid atresia, Depressed nasal bridge, Hemiverteb... |
ORPHA:97360 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Ventricular septal defect, Short nose, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
Distal Monosomy 15Q |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Broad nasal tip, Decreased serum insulin-... |
ORPHA:1596 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Atrial septal defect, Anteverted nares, Precocious puberty, Microcephaly |
OMIM:619356 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... |
ORPHA:2235 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Vascular ring, Abnormality of the curvature of ... |
ORPHA:353281 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Sparse pubic hair, Decreased serum estradiol, ... |
ORPHA:52901 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Depressed nasal bridge, Umbilical hernia, ... |
ORPHA:1507 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Sparse eyebrow, Pulmonic stenosis, Curly hair, C... |
OMIM:616559 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Abnormal vertebral morphology, Nail dystrophy, Sho... |
ORPHA:99688 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Aortic dissection, Peripheral axonal neuropathy, Mitral valve prolapse, ... |
ORPHA:1900 |
Parkes Weber Syndrome |
|
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Spinal arteriovenous malformation, B... |
ORPHA:90307 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Depressed nasal bridge, Congenital hypothyroidism, Short nose, Diabetes me... |
OMIM:614613 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Depressed nasal bridge, Short nose, Platyspondyly, Ovoid vertebral bodies, Wide anterior fontanel... |
ORPHA:163649 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Anencephaly, Polysplenia, Absent gallbladder, Atrial sept... |
ORPHA:1335 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Chorioretinal coloboma, Abnormal cerebral cortex morphology, Short nose, Hydrocephalus, Thick nas... |
ORPHA:163961 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Short nose, Iris coloboma, Anteverted nares, Aortic valve stenosis, Congenital kyphoscoliosis, De... |
ORPHA:536471 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Short nose, Kyphosis, Microcephaly, Delayed puberty, Generalized hirsutism, C... |
ORPHA:3121 |
Chops Syndrome |
|
Optic atrophy, Short nose, Long eyelashes, Patent ductus arteriosus, Thick hair, Thick eyebrow, A... |
OMIM:616368 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Beaking of vertebral bodies, Kyphoscoliosis, Short nose, Platyspondyly, P... |
ORPHA:457395 |
Ring Chromosome 7 Syndrome |
|
Highly arched eyebrow, Narrow naris, Low anterior hairline, Holoprosencephaly, Situs inversus tot... |
ORPHA:1449 |
Slc35A2-Cdg |
|
Inverted nipples, Abnormal heart morphology, Cerebral white matter atrophy, Cortical dysplasia, P... |
ORPHA:356961 |
Cardiofaciocutaneous Syndrome 1 |
|
Short nose, Splenomegaly, Bulbous nose, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus,... |
OMIM:115150 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection, Abnormal car... |
ORPHA:3342 |
Trisomy 8P |
|
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Annular pa... |
ORPHA:264450 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Short nose, Coarse hair, Abnormality of hair texture, Pachygyria, Wide anterior fon... |
OMIM:219200 |
Fg Syndrome Type 1 |
|
Prominent nose, Mitral valve prolapse, Umbilical hernia, Optic nerve hypoplasia, Coarctation of a... |
ORPHA:93932 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hypertrichosis, Lumbar kyphosis, Abnormal heart morph... |
ORPHA:505248 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arte... |
ORPHA:163979 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Prominent nasal bridge, Hydrocephalus, Anteverted nares, Microcephaly |
OMIM:300558 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septal defect, Venous insuf... |
ORPHA:90308 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Abnormality of the t... |
ORPHA:1923 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly, Hypoplastic vertebral bodies |
OMIM:601370 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplastic nipples, Neonatal death, Short nose, Patent ductus arteriosus,... |
OMIM:612289 |
Fibrochondrogenesis 1 |
|
Omphalocele, Depressed nasal bridge, Posterior vertebral hypoplasia, Short nose, Platyspondyly, S... |
OMIM:228520 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse, Depressed nasal bridge, Beaking of verte... |
ORPHA:536467 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly |
OMIM:245570 |
Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Broad nasal tip, Aganglionic megacolon, Peripheral pulmonary artery stenosis, Short nose, Wide na... |
OMIM:614749 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Iris coloboma, Optic... |
OMIM:300472 |
Giant Axonal Neuropathy |
|
Diffuse axonal swelling, Facial palsy, Abnormality of the pituitary gland, Woolly hair, Scoliosis... |
ORPHA:643 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares, Dilation... |
OMIM:610015 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Sparse lateral eyebrow |
OMIM:601224 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Abnormal verte... |
ORPHA:210122 |
Fetal Alcohol Syndrome |
|
Short nose, Atrial septal defect, Generalized hirsutism, Anteverted nares, Vertebral segmentation... |
ORPHA:1915 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Atrioventricular canal defect... |
OMIM:314390 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta,... |
OMIM:617022 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Sparse eyelashes, Short nose, Sparse eyebrow, Wide nasal bridge, Wide ... |
OMIM:613026 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Wide nas... |
OMIM:305400 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Short nose, Absent eyebrow, Absent eyelashes, Microcephaly |
OMIM:200130 |
Chung-Jansen Syndrome |
|
Short nose, Thick eyebrow, Anteverted nares, Cryptorchidism, Synophrys |
OMIM:617991 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Long nose, Wide nose, Patent ductus arteriosus, Tetralogy of Fallot,... |
ORPHA:2184 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Retinal coloboma, Abnormal heart morphology, Short nose, Wide nasal bridge, Horizontal eyebrow, B... |
OMIM:618571 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Short nose, Kyphosis, Bulbous nose, Scoliosis, Agenesis of corpus callosu... |
ORPHA:261144 |
Zimmermann-Laband Syndrome 1 |
|
Hirsutism, Aortic root aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic arch aneurysm, ... |
OMIM:135500 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short nose, Hydrocephalus, Anteverted nares, Low posterior hairline, Sparse hair, A... |
ORPHA:1340 |
|