Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:608644 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Chron... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Abdominal situs ambiguus, Productive cough, Situs... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurr... |
OMIM:612518 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Immoti... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Cough, Bronchiectasis, Decrease... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Dextrocardia,... |
OMIM:606763 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian) |
|
Enlarged sylvian cistern |
OMIM:615752 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Decreased nasal nitric... |
OMIM:620197 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:613808 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Upper airway obstruction, P... |
OMIM:612776 |
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 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... |
ORPHA:244 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... |
OMIM:618254 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Absence of the sacrum, Ventricular septal defect, D... |
OMIM:270100 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Situs inversus totalis, Asplenia, Absent frontal sinuses, Atelectasis... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Absent/shortened outer dynein arms, Abnormal ciliary motility, ... |
OMIM:610852 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo... |
OMIM:609008 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke, Atrial... |
OMIM:249270 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... |
OMIM:202650 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Productive cough, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Nasal con... |
OMIM:615434 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... |
OMIM:612649 |
Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Familial Visceral Myopathy |
|
Anteverted nares, Prominent nasal bridge, Abdominal situs inversus, Micrognathia |
ORPHA:2604 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Patent ductus arteriosus, Abno... |
ORPHA:3097 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Wide nasal bridge, Abdominal situs inversus, Micrognathia |
ORPHA:2062 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia... |
OMIM:314390 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares... |
ORPHA:990 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Micrognathia, Patent ductus arteriosus, Wide nasal bridg... |
ORPHA:2863 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Small... |
ORPHA:2108 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Wide nasal bridge, Atrial septal defect, Hypo... |
ORPHA:89844 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly |
ORPHA:329228 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ... |
OMIM:613686 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency, Absent central microtubular pair morphology of res... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Micrognathi... |
ORPHA:2257 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Coar... |
ORPHA:3426 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Pat... |
OMIM:601186 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly |
OMIM:612691 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... |
OMIM:106700 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory... |
ORPHA:1832 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Missing ribs, Respiratory insufficiency, Abnormal tricuspid valve mor... |
ORPHA:1759 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly |
ORPHA:1084 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Ventriculomegaly |
OMIM:615763 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Ciliary dyskinesia, Nasal polyposis, Absent respiratory ciliary axoneme radial sp... |
OMIM:242670 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly |
ORPHA:2732 |
Bardet-Biedl Syndrome 17 |
|
Short fourth metatarsal, Dextrocardia, Situs inversus totalis, Anosmia, Hyposmia |
OMIM:615994 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
Ciliary Dyskinesia, Primary, 50 |
|
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms, Chronic bronchitis |
OMIM:620356 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... |
ORPHA:922 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Ventriculomegaly |
OMIM:620106 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:2015 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... |
OMIM:618433 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Sporadic Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Gliosis, Astrocytosis |
ORPHA:204 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Ventriculomegaly, Astrocytosis |
OMIM:611087 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
17Q21.31 Microduplication Syndrome |
|
Malar flattening, Short nose, Anteverted nares, Micrognathia |
ORPHA:217340 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly |
ORPHA:1568 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, Heterotaxy, Malar flattening, Broad columella |
ORPHA:3242 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly |
ORPHA:171703 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
Joubert Syndrome |
|
Apnea, Anteverted nares, Prominent nasal bridge, Episodic tachypnea, Situs inversus totalis, Abno... |
ORPHA:475 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Ventriculomegaly |
OMIM:618677 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Short hallux, Micrognathia, Sh... |
ORPHA:280 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Short ... |
ORPHA:261120 |
Ventriculomegaly And Arthrogryposis |
|
Ventriculomegaly |
OMIM:619501 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Wide nasal bridge, Neutropenia, Atrial septal defect, Ma... |
OMIM:618067 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Cryptorchidi... |
OMIM:618316 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly |
OMIM:618383 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen... |
OMIM:185070 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Concave nasal ridge, Peripheral arterial stenosis |
OMIM:124950 |
Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
Masa Syndrome |
|
Ventriculomegaly |
ORPHA:2466 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly |
OMIM:613402 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... |
ORPHA:991 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... |
ORPHA:96097 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Lissencephaly 1 |
|
Ventriculomegaly |
OMIM:607432 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Bonnemann-Meinecke-Reich Syndrome |
|
Ventriculomegaly |
ORPHA:1261 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short foot, Short nose, Small hand, Short 5th finger |
OMIM:300577 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Bowen-Conradi Syndrome |
|
Ventriculomegaly |
ORPHA:1270 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... |
ORPHA:3304 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Shor... |
ORPHA:401935 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Dextrocardia |
OMIM:173800 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Ventriculomegaly |
ORPHA:3207 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextro... |
OMIM:618280 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly |
OMIM:618730 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Underdeveloped nasal alae, Abnormality of the pancreas, ... |
ORPHA:2315 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Ventriculomegaly |
OMIM:619323 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly |
OMIM:613925 |
Non-Distal Duplication 10Q |
|
Short nose, Depressed nasal bridge, Convex nasal ridge, Micrognathia |
ORPHA:1695 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Astrocytoma, Optic nerve glioma |
ORPHA:649929 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly |
OMIM:616486 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Dextrocardia, Micrognathia, Abnormality of dental eruption, Wide nasal bridge, ... |
ORPHA:96092 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short nose, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... |
ORPHA:2306 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Depressed nasal bridge, Micromelia, Patent ductu... |
ORPHA:166272 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Transposition of the great arter... |
ORPHA:1913 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Ventriculomegaly |
OMIM:620314 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Short nose, Retrognathia, Broad nasal tip |
OMIM:613670 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Bilateral Striopallidodentate Calcinosis |
|
Ventriculomegaly |
ORPHA:1980 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Ventriculomegaly |
ORPHA:500166 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micrognathia, Asplenia,... |
ORPHA:99776 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Patent ductus arteriosus, Lateral ventricle dilatation, Pulmonary sequ... |
OMIM:618330 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Isolated Cleft Lip |
|
Situs inversus totalis, Supernumerary maxillary incisor |
ORPHA:199302 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Pulmonary hypoplasia, Neonata... |
OMIM:615524 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm |
ORPHA:261102 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Spina bifida o... |
ORPHA:2437 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Abnormal aortic morp... |
ORPHA:1926 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Ventriculomegaly |
OMIM:617616 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly |
OMIM:611722 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Vasculitis, Arterial stenosis, ... |
ORPHA:3287 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Ventriculomegaly |
OMIM:617613 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Inherited Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Astrocytosis |
ORPHA:282166 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, Dandy-Wal... |
OMIM:614846 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Ciliary dyskinesia |
ORPHA:1882 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Cryptorchidism, Atrioventricular canal defect, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm |
ORPHA:79094 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Vascular ring, Atrial septal defect, Ventriculomegaly |
OMIM:603387 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abdominal aortic aneurys... |
ORPHA:91387 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ventriculomegaly |
ORPHA:1388 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Micrognathia, Situs inversus totalis, Congenital hepatic f... |
ORPHA:564 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology, Coronary ar... |
ORPHA:1192 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly |
ORPHA:2515 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu... |
ORPHA:284169 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
Perlman Syndrome |
|
Hepatomegaly, Anteverted nares, Micrognathia, Abnormal pancreas morphology, Wide nasal bridge, Sh... |
ORPHA:2849 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cryptorchidism, Abnormal aortic morphology, Tetralogy of Fallot, Abnor... |
ORPHA:1166 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Short nose, Delayed eruption of permanent teeth, Anteverted nares |
OMIM:618506 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Bulbous n... |
OMIM:309500 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus... |
OMIM:618961 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1450 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S... |
OMIM:145420 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splen... |
OMIM:170100 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Ventriculomegaly |
OMIM:300209 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Recurrent pneumonia, Micrognathia |
ORPHA:1495 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Pulmonary arterial hypertension, Short nose, Tetra... |
OMIM:300887 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Anemia, Micrognathia |
ORPHA:2598 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus |
OMIM:614886 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... |
OMIM:220220 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly |
ORPHA:168624 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Situs inversus totalis, Small ha... |
ORPHA:1449 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Ventriculomegaly |
OMIM:616570 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal defect, Thick nasal al... |
ORPHA:79345 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,... |
OMIM:619356 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal cardiac septum morphology |
ORPHA:2370 |
Marden-Walker Syndrome |
|
Cryptorchidism, Pulmonary hypoplasia, Dextrocardia, Dandy-Walker malformation |
OMIM:248700 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Pulmonary artery atresia, Double ou... |
OMIM:301056 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Neonatal death, Atrial sep... |
OMIM:265380 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Peho-Like Syndrome |
|
Short nose, Retrognathia |
OMIM:617507 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly |
OMIM:616540 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao... |
ORPHA:261183 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, T l... |
OMIM:242860 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormal he... |
ORPHA:391372 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Tachypnea, Short r... |
OMIM:613320 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Broad nasal tip, Heterotaxy, Interrupted inferior vena cava with azygo... |
OMIM:618846 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Micrognathia, Atrioventricular canal defect, Patent ductus arteriosus, Pu... |
ORPHA:251071 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr... |
ORPHA:314588 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Pulmon... |
OMIM:313850 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, ... |
ORPHA:261197 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Short columella... |
ORPHA:171839 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Ventriculomegaly |
OMIM:608716 |
Mirage Syndrome |
|
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Aspiration pneum... |
OMIM:617053 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Ventriculomegaly |
ORPHA:85179 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Atri... |
ORPHA:2409 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Dil... |
ORPHA:2326 |
Macdermot-Winter Syndrome |
|
Ventriculomegaly |
OMIM:247990 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Holopros... |
ORPHA:93274 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
Carpenter Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Dextrocardia, Situs inversus totalis, Carious teeth, Pa... |
OMIM:614976 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Short nose, Small hand, Inspiratory stridor |
OMIM:618618 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Cardiomyopathy, Neural tube defect, Pulmonary hypoplas... |
ORPHA:79321 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Short palm, Short nose |
ORPHA:969 |
Achondrogenesis Type 1A |
|
Anteverted nares, Micromelia, Micrognathia, Short foot, Aplasia/Hypoplasia of the lungs, Short pa... |
ORPHA:93299 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Achondrogenesis |
|
Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Short nose |
ORPHA:932 |
Fryns Syndrome |
|
Ventriculomegaly, Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardiac septum morpho... |
ORPHA:2059 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Ventriculomegaly, Coarctation of aorta |
OMIM:620210 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Micrognathia, Short foot, Aplasia/Hypoplasia of the lungs, Short nose |
ORPHA:93298 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Ventricular septal defect, Ventriculomegaly |
OMIM:613730 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Ventriculomegaly |
OMIM:620200 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly |
OMIM:618624 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Micrognathia, Retrognathia, Apneic episodes in infancy, Short nose, Thick nas... |
ORPHA:163961 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Short palm, Malar flattening, Sh... |
ORPHA:93328 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Short toe, Short foot, Short finger, Short palm, Malar flattening, Sh... |
OMIM:602342 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Bulbous nose, Atrial... |
OMIM:613870 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Short nose, Neonatal respiratory distress, Micrognathia |
OMIM:615042 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistula, Abnormal cardia... |
OMIM:614294 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Malar flattening, Short nose, Convex n... |
ORPHA:2145 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Dextrocardia, Anteverted nares, Prominent nasal bridge, Abnormal pattern of respiration |
ORPHA:220493 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... |
ORPHA:210122 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Verheij Syndrome |
|
Anteverted nares, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Short 5th finger... |
OMIM:615583 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Depressed nasal bridge, A... |
ORPHA:1458 |
Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose |
ORPHA:2429 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent... |
OMIM:619189 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat... |
ORPHA:314655 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert... |
OMIM:610015 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Ventriculomegaly |
OMIM:300699 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lobation, Anomalous ... |
ORPHA:1120 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Short nose |
ORPHA:1389 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly |
OMIM:618974 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Short nose, Micrognathia |
ORPHA:2547 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Unilateral primary pulmonary ... |
OMIM:192430 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia |
OMIM:617183 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
3C Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Abnormal mit... |
ORPHA:7 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ventriculomegaly |
OMIM:206570 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Coronary artery calcification, Cardiomegaly, Carotid artery calcif... |
OMIM:208000 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Ventricular septal defect, Cardiomegaly, Micrognathia, Wide nasal ... |
OMIM:616897 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Abnormal heart morphology |
DECIPHER:52 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Ventriculomegaly |
OMIM:301107 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Respiratory insufficiency, Short nose |
ORPHA:1895 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Ventriculomegaly, Increased CSF lactate |
ORPHA:255182 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Respiratory distress, Recurrent respiratory infections, Anteve... |
OMIM:619383 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defect, Ventriculome... |
ORPHA:2655 |
Neuronal Intranuclear Inclusion Disease |
|
CSF pleocytosis, Increased CSF protein concentration, Ventriculomegaly |
OMIM:603472 |
Hemimegalencephaly |
|
Gliosis, Ventriculomegaly |
ORPHA:99802 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Wide nasal bridge, Micrognathia |
OMIM:618577 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Chung-Jansen Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
OMIM:617991 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac ... |
OMIM:608776 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Micrognathia |
ORPHA:1514 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate |
OMIM:616277 |
Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... |
OMIM:620305 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Asplenia, Patent ductus arteriosus, ... |
OMIM:617746 |
Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Short ribs, Pulmonary hypoplasia, Short nose |
OMIM:241800 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Joubert Syndrome 31 |
|
Ventriculomegaly |
OMIM:617761 |
16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tri... |
ORPHA:485405 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Splenomegaly, Carious teeth, Rec... |
OMIM:604173 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ventriculomegaly |
ORPHA:1188 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Short foot, Limb undergrowth, Short... |
OMIM:614078 |
Brain Small Vessel Disease 2 |
|
Ventriculomegaly |
OMIM:614483 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Ventriculomegaly |
OMIM:618251 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Micrognathia, Prominent nasal bridge, Broad nasal tip |
OMIM:613544 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Underdeveloped nasal ala... |
ORPHA:2637 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Ventricular septal defect, Anteverted nares, Micrognathia, Short nose |
OMIM:617201 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Abnormal zy... |
ORPHA:3342 |
Trisomy 5P |
|
Ventriculomegaly |
ORPHA:1742 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... |
OMIM:614034 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Short nose |
ORPHA:1716 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Ventriculomegaly |
OMIM:613151 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Ventriculomegaly |
ORPHA:319199 |
Tetrasomy 9P |
|
Micrognathia, Biliary atresia, Patent foramen ovale, Amelogenesis imperfecta, Absent gallbladder,... |
ORPHA:3310 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Ventriculomegaly |
ORPHA:2772 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:613604 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly |
ORPHA:2172 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Long nose, Carious teeth, Coarctation of aort... |
OMIM:617602 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Apnea, Cardiomegaly... |
OMIM:608013 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Mitral valve prolapse |
ORPHA:90653 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Pulmonic stenosis, Hypertrophic cardiomyopathy, Short nose |
ORPHA:2701 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly |
OMIM:617977 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Respiratory insufficiency, Short nose,... |
ORPHA:1914 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Abnormal pattern of respiration |
ORPHA:833 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Short toe, Anterior open-bite malocclusion, Perimembranous ve... |
OMIM:617877 |
Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly |
OMIM:300088 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Antev... |
ORPHA:950 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Ventriculomegaly |
ORPHA:168486 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Knobloch Syndrome |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ventriculomegaly |
OMIM:612951 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus... |
OMIM:609029 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Micrognathia |
OMIM:615419 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Mi... |
OMIM:217980 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose |
OMIM:618437 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Abnormal lung lobation, Coarc... |
OMIM:300514 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly |
ORPHA:521390 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Opsismodysplasia |
|
Hepatomegaly, Recurrent respiratory infections, Depressed nasal bridge, Splenomegaly, Respiratory... |
ORPHA:2746 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Hypo... |
OMIM:301043 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Feingold Syndrome 1 |
|
Accessory spleen, Anteverted nares, Ventricular septal defect, Tricuspid stenosis, Micrognathia, ... |
OMIM:164280 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose |
OMIM:614524 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose |
OMIM:612563 |
3-Hydroxyisobutyric Aciduria |
|
Ventriculomegaly |
ORPHA:939 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Ventriculomegaly |
OMIM:616531 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:163956 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri... |
OMIM:618652 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella |
OMIM:617752 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bulbou... |
OMIM:617061 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... |
OMIM:614613 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation |
OMIM:219730 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Recur... |
ORPHA:500159 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Hypoplastic dista... |
ORPHA:93329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Wide nasal bridge, Aortic valv... |
OMIM:243310 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic ... |
OMIM:612938 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Prol... |
OMIM:618828 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Short toe, Abnormality of dental... |
ORPHA:1327 |
Oxoglutarate Dehydrogenase Deficiency |
|
Ventriculomegaly |
OMIM:203740 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Pulmonar... |
ORPHA:90308 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Wide nasa... |
ORPHA:369891 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Short distal phalanx of finger |
OMIM:302950 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose |
ORPHA:217385 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:619180 |
Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, Atrial septal defect, Short nose, Patent foramen ovale |
OMIM:616854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:2970 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Apneic epi... |
ORPHA:3078 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... |
OMIM:241310 |
Giant Cell Arteritis |
|
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, D... |
ORPHA:397 |
Heart And Brain Malformation Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Wide nasal bridge, Limb undergrowth, Neutropenia, Atrial septal defect,... |
OMIM:618005 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Respiratory tract infection, Wide nasal bridge, Restrictive ventilator... |
OMIM:218000 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... |
ORPHA:77298 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morpholog... |
ORPHA:439822 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Bulbous nose, Abnorm... |
OMIM:614114 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cardiomegaly |
OMIM:269920 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Atrial septal defect, Short nose... |
OMIM:614261 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Ventricular septal defect, Anteverted nares, Micromelia, Microgna... |
OMIM:211750 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... |
OMIM:613001 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s... |
OMIM:615355 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Anteverted na... |
ORPHA:261494 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Increased CSF lactate, Lateral ventricle dilatation, Gliosis, Abnormal CSF py... |
ORPHA:79243 |
Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S... |
OMIM:249620 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... |
ORPHA:261311 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, ... |
OMIM:608022 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia,... |
OMIM:610536 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... |
OMIM:617506 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Pearson Syndrome |
|
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Short nose, Depressed nasal bridge, Broad nasal tip |
OMIM:619736 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Ventriculomegaly |
OMIM:611555 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep... |
OMIM:614749 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia |
ORPHA:496790 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Malar flattening, Short nose |
ORPHA:79113 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Micrognathia, Dental malocc... |
ORPHA:329178 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Choanal ... |
ORPHA:1662 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Aplastic clavicle, Micro... |
ORPHA:50945 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Underdeveloped nasal alae, Situs in... |
OMIM:243800 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pu... |
OMIM:616368 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Abno... |
ORPHA:536545 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Patent ductus arteriosus, Choanal stenosis, A... |
ORPHA:1790 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Desmosterolosis |
|
Depressed nasal bridge, Micromelia, Abnormality of the nose, Micrognathia, Splenomegaly, Patent d... |
ORPHA:35107 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Tetralo... |
OMIM:612582 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Broad... |
OMIM:300166 |
Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterio... |
OMIM:617751 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... |
ORPHA:136 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:615630 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Apnea, Micrognathia |
ORPHA:1129 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus... |
ORPHA:96170 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:615716 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Recurrent lower respiratory tract infections, ... |
OMIM:617802 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:2962 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
ORPHA:3282 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Micrognathia, Carious teeth, Wide nasal bridge, Abno... |
OMIM:613026 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Wide nose, Micrognathia, Secundum atrial septal defect, Splenomegaly, Jaundice, Neo... |
OMIM:608779 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose |
OMIM:300143 |
Orofaciodigital Syndrome Xv |
|
Ventriculomegaly |
OMIM:617127 |
Autosomal Recessive Primary Microcephaly |
|
Ventriculomegaly |
ORPHA:2512 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida |
OMIM:207950 |
Developmental And Epileptic Encephalopathy 65 |
|
Ventriculomegaly |
OMIM:618008 |
Kohlschutter-Tonz Syndrome |
|
Ventriculomegaly |
OMIM:226750 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, V... |
ORPHA:1860 |
Linear Verrucous Nevus Syndrome |
|
Ventriculomegaly, Astrocytoma, Dandy-Walker malformation |
ORPHA:2611 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Retinal arteriolar ... |
ORPHA:567 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Short nose,... |
OMIM:605309 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Flared nostrils, Hand oligodactyly, Fibular hypoplasia, Interrupted infer... |
OMIM:206920 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly |
ORPHA:452 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Short nose, Depressed nasal bridge |
ORPHA:210548 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge |
OMIM:616910 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr... |
OMIM:618454 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Ventric... |
OMIM:614576 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ventriculomegaly |
OMIM:612936 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Ventriculomegaly |
ORPHA:206559 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Short nose, Depressed nasal ridge |
OMIM:613885 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cryptorchidism, Patent d... |
ORPHA:1600 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Ventriculomegaly |
OMIM:300215 |
Alg9-Cdg |
|
Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal left ventricular out... |
ORPHA:79328 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Persi... |
OMIM:618494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Anteverted nares, Short hallux, Micrognat... |
ORPHA:3309 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Depressed nasal ridge, Short foot, Short palm, Short nose |
ORPHA:163966 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Ventriculomegaly |
ORPHA:85277 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ventriculomegaly |
OMIM:618273 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Patent ductus arteriosu... |
ORPHA:363528 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Cadds |
|
Short nose, Cholangitis, Cholestasis, Micrognathia |
ORPHA:369942 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... |
ORPHA:1465 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose |
OMIM:616459 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Aspirat... |
OMIM:616430 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolap... |
OMIM:614185 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Mitral valve prolapse, Right... |
OMIM:612863 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Inte... |
ORPHA:250989 |
Trisomy 1Q |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus, Short nose, Dis... |
OMIM:300863 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Atrial... |
OMIM:617159 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, L... |
ORPHA:90065 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Increased CSF protein concentration, Gliosis, Astrocytosis |
OMIM:203700 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Neonatal respiratory distress, Depressed nasal bridge, Short metatarsal, Conca... |
OMIM:251450 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:3376 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Anteverted nares, Broad nasal tip, Micrognathia, Wide nasal bridge, Mesome... |
OMIM:618529 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Thoracic aortic aneurysm, Microgn... |
ORPHA:536467 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Hydrocele testis, Transposition of the grea... |
OMIM:280000 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short nose, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae |
ORPHA:2083 |
Leukodystrophy, Hypomyelinating, 24 |
|
Ventriculomegaly |
OMIM:619851 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hemiatrophy of upper limb, Short nose |
ORPHA:163649 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... |
OMIM:614753 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Lambotte Syndrome |
|
Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Asthma, Short nose, Te... |
ORPHA:280200 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge, Anemia |
ORPHA:99688 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Short nose, Depressed nasal bridge |
ORPHA:2143 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Pericardial effusion, Pleural effusion, S... |
OMIM:617822 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic right heart, Ventricular septal defect, Mic... |
OMIM:616894 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Pulmo... |
OMIM:258315 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... |
OMIM:101600 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Da... |
OMIM:614424 |
Joubert Syndrome 9 |
|
Encephalocele, Ventriculomegaly |
OMIM:612285 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, T... |
OMIM:602398 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
Lissencephaly 8 |
|
Occipital encephalocele, Ventriculomegaly |
OMIM:617255 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:620250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet... |
ORPHA:819 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Robinow Syndrome |
|
Micrognathia, Atrial septal defect, Depressed nasal bridge, Anteverted nares, Persistence of prim... |
ORPHA:97360 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Ventriculomegaly |
ORPHA:2643 |
Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Respiratory distress, Recurrent respiratory infections, Anteverted nares, Br... |
ORPHA:177907 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Hypoplasia of teeth, Short nose |
ORPHA:391408 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Choanal stenosis, Short ... |
OMIM:619859 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Short nose |
OMIM:618571 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Short nose, Anteverted nares, Micrognathia |
ORPHA:1915 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis |
ORPHA:258 |
Trisomy 12P |
|
Malar flattening, Short nose, Wide nasal bridge, Micrognathia |
ORPHA:1699 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Broad nasal tip, Short toe, Wide nasal bridge, Abnormal heart morphology, ... |
OMIM:239300 |
Non-Distal Duplication 13Q |
|
Short nose, Micrognathia |
ORPHA:1702 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Leukodystrophy, Hypomyelinating, 10 |
|
Malar flattening, Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Arteriovenous malformation, Pu... |
ORPHA:974 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Ventriculomegaly |
OMIM:300957 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Rhizomelia, Small hand, Fibular h... |
OMIM:228520 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, A... |
ORPHA:96147 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Depressed nasal bridge, Anteverted nares, Abnorm... |
ORPHA:264450 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Jaundice, Concave nasal ridge, Prolonged neonatal jaund... |
OMIM:613038 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Prominent nasa... |
OMIM:601812 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... |
OMIM:231005 |
Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, Underdevelope... |
ORPHA:1234 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr... |
ORPHA:560 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosu... |
ORPHA:505248 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Micrognathia, Patent ductus arteriosus, Wide ... |
ORPHA:2282 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intracranial ... |
ORPHA:163979 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... |
OMIM:300855 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Short clavicl... |
OMIM:608612 |
Femoral-Facial Syndrome |
|
Short nose, Short femur, Aplasia/Hypoplasia of the tibia, Micrognathia |
ORPHA:1988 |
Peho Syndrome |
|
Short nose, Retrognathia |
OMIM:260565 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Short nose, Short distal ... |
ORPHA:1295 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fibrosis, Respiratory insufficien... |
ORPHA:2031 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Hydrocephalus, Abnormal he... |
ORPHA:137667 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hydro... |
OMIM:130720 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ab... |
ORPHA:2331 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Ventricular septal defec... |
OMIM:244450 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short palm, Sh... |
ORPHA:261211 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Anteverted nares, Wide nasal bridge, Short femoral neck, Enamel agenesis, Short nose, Tetralogy o... |
OMIM:614701 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Short nose, Anteverted nares |
ORPHA:884 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose, Patent foramen ovale |
OMIM:619179 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate |
OMIM:604377 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Abnormal mitochondrial shape, Patent ductus arteriosus, Coarcta... |
ORPHA:17 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Emphysema, Prominent veins on trunk, Prominent ... |
ORPHA:357074 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, S... |
ORPHA:2911 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Atria... |
ORPHA:329224 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Short metacarpal, Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose... |
ORPHA:508533 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Restr... |
OMIM:615398 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Micrognathia, Patent ductus arteriosus, Coarctation of aorta, Card... |
ORPHA:3338 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Cherry red spot of the macula, Hydrocephalus, Abnormal heart morphology |
ORPHA:93400 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
Marshall-Smith Syndrome |
|
Apnea, Choanal stenosis, Aspiration pneumonia, Atrial septal defect, Recurrent aspiration pneumon... |
OMIM:602535 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Short f... |
OMIM:156200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Ventriculomegaly |
OMIM:606854 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Pred... |
OMIM:146510 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopu... |
OMIM:620025 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Atrial septal defect... |
OMIM:618950 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Ventriculomegaly |
ORPHA:2158 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Sp... |
ORPHA:580 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Re... |
ORPHA:217085 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Type IV atherosclerotic lesion, Pe... |
ORPHA:412 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Pulmonary hypoplasia |
ORPHA:1865 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis |
ORPHA:309854 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Depressed nasal ... |
OMIM:619005 |
Distal Deletion 10Q |
|
Prominent nasal bridge, Prominent nose, Micrognathia, Patent ductus arteriosus, Short metatarsal,... |
ORPHA:96148 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Wide nasal bridge, Short c... |
OMIM:613603 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Pulmonary hypop... |
OMIM:614080 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Ogden Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect, Ventriculomegaly |
ORPHA:276432 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Short nose, Thrombocytopeni... |
OMIM:616638 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery hypoplasia, Atrial ... |
OMIM:616777 |
Toluene Embryopathy |
|
Short nose, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:1920 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... |
OMIM:200600 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Re... |
ORPHA:217093 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Un... |
OMIM:616835 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect |
OMIM:614815 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Short nose |
OMIM:618087 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:2256 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Dilation of Virchow-Robin spaces |
OMIM:619951 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Hepatic fibrosis, Pulmonary hypoplasia, Polyspleni... |
OMIM:200995 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, ... |
OMIM:618870 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Small hand, Short fo... |
ORPHA:93259 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Atri... |
ORPHA:3378 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate |
OMIM:614946 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Abnormal dental enamel morphology, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Hypoplastic scapulae, Depress... |
OMIM:166250 |
Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Cardio... |
OMIM:618798 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Trisomy 17P |
|
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus |
ORPHA:261290 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... |
ORPHA:1329 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi... |
OMIM:258480 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Depressed nasal bridge, Short hallux, Micrognathia, Short thumb,... |
ORPHA:90652 |
Otopalatodigital Syndrome, Type I |
|
Short hallux, Absent frontal sinuses, Wide nasal bridge, Multiple impacted teeth, Short 3rd metac... |
OMIM:311300 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery hypoplasia,... |
OMIM:300963 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Respiratory distress |
ORPHA:544503 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Ventriculomegaly |
OMIM:615760 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Bresek Syndrome |
|
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Hol... |
OMIM:269860 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
ORPHA:1780 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:2075 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... |
ORPHA:71493 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch, Atr... |
OMIM:300712 |
Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Apnea, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy, Resp... |
OMIM:601559 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Hydrocephalus, Coarctation of aorta, Mitral valve prolapse, Atrial septal defect,... |
ORPHA:93932 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Abnormal heart valve morphology, Abnormal mesentery morphology, Pneumothorax, ... |
ORPHA:2953 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Micrognathia, Aplas... |
ORPHA:1225 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Dandy-Walker malformat... |
OMIM:220500 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Short sternum, Pulmonic stenos... |
OMIM:257300 |
20Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short foot, Short palm, Abnormal nas... |
ORPHA:363659 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Wide nasal bridg... |
OMIM:305400 |
Gomez-Lopez-Hernandez Syndrome |
|
Malar flattening, Short nose, Anteverted nares |
OMIM:601853 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis |
OMIM:601104 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... |
OMIM:607330 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Ventriculomegaly |
OMIM:617452 |
Rere-Related Neurodevelopmental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Abnormal heart morphology |
ORPHA:494344 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Ventricular septal de... |
ORPHA:1507 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Short middle... |
OMIM:136140 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide n... |
OMIM:613457 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Carious teeth, Small hand, Hypoplasia of the zygomatic bone, Short palm, Short... |
ORPHA:1786 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect |
OMIM:616651 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:894 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Mandibular prognathia, Anteverted nares, Ventricular septal defect, Abnormal... |
ORPHA:2710 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal heart morp... |
OMIM:247200 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... |
OMIM:609942 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:606003 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Tyshchenko Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Marshall-Smith Syndrome |
|
Short nose, Retrognathia, Anteverted nares, Choanal atresia |
ORPHA:561 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Short sternum, Malar flatteni... |
OMIM:222448 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect |
OMIM:619542 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cryp... |
OMIM:601808 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Ventricular septal defect, Prominent nasal bridge, Micrognathia, Dental malocclusion, ... |
ORPHA:251028 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Arterial stenosis, Mitral... |
ORPHA:758 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absence ... |
ORPHA:476126 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Recurrent respiratory infections, Underdeveloped nasal alae, Wide nasal br... |
OMIM:193700 |
Cockayne Syndrome Type 3 |
|
Astrocytosis |
ORPHA:90324 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Micrognathia, Wide nasal bridge, Pleural effusion, Pulmonary ... |
OMIM:620369 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Abnormal lung lobation |
OMIM:217100 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short hallux, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short foot, Short palm, Short ... |
ORPHA:363417 |
Gapo Syndrome |
|
Prominent scalp veins, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Reti... |
OMIM:230740 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Small hand, Short nose, Convex nasal ridge |
ORPHA:3121 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Splenomegaly, Bulbous nose, Dental malocc... |
OMIM:115150 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Patent ductus arteri... |
ORPHA:280633 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Absen... |
OMIM:301040 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Depressed nasal bridge, Short nose |
OMIM:618430 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, Holoprosencephaly, Ventriculomegaly |
OMIM:612530 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short nose, Micrognathia |
OMIM:615851 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Anteverted n... |
OMIM:147791 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge |
OMIM:614732 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Ventriculomegaly |
ORPHA:505237 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... |
ORPHA:364577 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Pulmonary artery stenosis, Retrognathia, Short... |
OMIM:301030 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Cryptorchidism, Coarctation of aorta, Atrial septal d... |
ORPHA:2008 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fo... |
OMIM:619488 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, C... |
ORPHA:565612 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Natal tooth, Malformation of the hepatic ductal plate, Micrognathia, Asplenia, ... |
OMIM:249000 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal ... |
OMIM:300749 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... |
ORPHA:508488 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ventriculomegaly |
OMIM:615879 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617635 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... |
OMIM:608149 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Short nose, Respiratory distress, Micromelia |
ORPHA:50810 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Micrognathia, Mitral valve prolapse, Aortic... |
OMIM:618000 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormality of the temporomandibular joint, Depressed nasal bridge, Anteve... |
ORPHA:536471 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spina bifida occulta, Transp... |
OMIM:201000 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli... |
OMIM:108720 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Dilatation of the cerebral artery, Malar flattening, Short nose, Thrombocytopenia |
OMIM:612394 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Ventricular septal defect, Missing ribs, Shor... |
ORPHA:2308 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Patent ductus arteriosus, Incr... |
ORPHA:457395 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, 11 pairs of ribs, Short metacarpal, Broad nasal tip, Long nose, Mesocardia, ... |
ORPHA:2044 |
Tetrasomy 18P |
|
Short nose |
ORPHA:3307 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypoplasia |
OMIM:617925 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Mesomelia, Short nos... |
OMIM:616331 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Patent ductus arteriosus, Subvalvular aortic stenosis, Pulmonary arterial... |
ORPHA:65286 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micromelia, Microgna... |
OMIM:259775 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Intracranial hemorrhage, Arteriovenous malformation, S... |
ORPHA:109 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Dyspn... |
ORPHA:391665 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Sho... |
OMIM:613458 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Short foot, Short palm, Sh... |
ORPHA:93258 |
Khan-Khan-Katsanis Syndrome |
|
Patent ductus arteriosus after premature birth, Micrognathia, Bilateral superior vena cava with n... |
OMIM:618460 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Lateral ventricle dil... |
OMIM:619575 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Cryptorchidism, Paten... |
OMIM:214800 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the ulna, Short metacarpal, Micrognathia, Aplasia/hypoplasia of the humerus, Short ... |
OMIM:609945 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Colpocephaly, Pulmonary artery atresia, Pate... |
OMIM:620113 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep... |
OMIM:614207 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat... |
OMIM:210250 |
Lathosterolosis |
|
Hepatomegaly, Anteverted nares, Micrognathia, Intrahepatic cholestasis, Bulbous nose, Anisopoikil... |
ORPHA:46059 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Carious teeth, Taurodontia, Atr... |
OMIM:164200 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Small hand, Short fo... |
ORPHA:93260 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... |
ORPHA:2162 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor... |
ORPHA:1708 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H... |
OMIM:309801 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Cryptorchidism, Muscular v... |
OMIM:619503 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... |
OMIM:300912 |
Micro Syndrome |
|
Short nose, Anteverted nares, Wide nasal bridge, Micrognathia |
ORPHA:2510 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Cryptorchidism, Pulmonary hypo... |
OMIM:617063 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Asthma, Smal... |
ORPHA:444077 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose |
ORPHA:2557 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Aortic root aneurysm, Hydrocephalus, Mitral valve prolapse |
OMIM:616914 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:300472 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Short thu... |
OMIM:268400 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, A... |
ORPHA:96167 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Short femoral neck, Malar flat... |
OMIM:616723 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus ... |
OMIM:180849 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Abnormal aortic arch morpho... |
ORPHA:96334 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Short ribs, Limb undergrowth, Malar flattening, Short nose |
OMIM:269250 |
Antley-Bixler Syndrome |
|
Hypoplasia of the zygomatic bone, Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Carious teeth, Malar flattening, Short nose, Anteverted nares |
OMIM:219200 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Shor... |
ORPHA:1812 |
Fetal Hydantoin Syndrome |
|
Short nose, Depressed nasal ridge, Short distal phalanx of finger |
ORPHA:1912 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Depressed nasal bridge,... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis,... |
OMIM:235255 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Ventriculomegaly |
OMIM:618314 |
Myopathy With Extrapyramidal Signs |
|
Increased CSF protein concentration, Ventricular septal defect |
OMIM:615673 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, W... |
OMIM:213980 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Abnormal cardiac septum mor... |
ORPHA:2166 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Macrodontia of pe... |
OMIM:154780 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, ... |
OMIM:245600 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Atrial septal defect, Occipital meningocele, Ve... |
OMIM:616546 |
Trisomy 10P |
|
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognath... |
ORPHA:171929 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Laryng... |
OMIM:271510 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Asplenia, Single naris, Peripheral pulmonary vessel aplasia, Pulmo... |
OMIM:273395 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Abnormal lung lob... |
OMIM:236680 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Cryptorchidism |
OMIM:611174 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Ventriculomegaly |
ORPHA:254346 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Colpocephaly |
OMIM:609053 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Short foot, Aortic valve ste... |
OMIM:231050 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Dandy-Walker malformation |
ORPHA:2481 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bilateral ulnar hypoplasia, Hypoplastic sacrum, Depressed nasal bridge, Anteverted nares, Microgn... |
OMIM:268310 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Intracranial hemorrhage, Abnormal... |
ORPHA:363618 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Dandy-Walker malformation |
OMIM:616901 |
Warburg Micro Syndrome 3 |
|
Short nose, Micrognathia |
OMIM:614222 |
Ctcf-Related Neurodevelopmental Disorder |
|
Anteverted nares, Broad nasal tip, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arte... |
ORPHA:363611 |
Peho Syndrome |
|
Malar flattening, Short nose, Anteverted nares, Recurrent respiratory infections |
ORPHA:2836 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Proteus-Like Syndrome |
|
Venous insufficiency, Bronchogenic cyst, Hydrocephalus, Communicating hydrocephalus |
ORPHA:2969 |
Whipple Disease |
|
Myocarditis, Pericarditis, Pleuritis, Hydrocephalus |
ORPHA:3452 |
Alagille Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Peripheral... |
ORPHA:52 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Hypoplasi... |
OMIM:616007 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect |
ORPHA:447980 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Cr... |
ORPHA:353281 |
Charge Syndrome |
|
Aortic arch aneurysm, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Abnormal car... |
ORPHA:138 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Opitz Gbbb Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal h... |
ORPHA:2745 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella |
OMIM:615803 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Recurrent pneumonia, Abnormal heart valve morphology |
OMIM:309900 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Micrognathia, Short nose, Convex nasal ridge, Short distal p... |
ORPHA:90154 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect |
OMIM:309520 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchi... |
OMIM:300998 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1185 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Short palm, Hepatoblastoma, Atrial septal defect, ... |
OMIM:312870 |
Down Syndrome |
|
Depressed nasal bridge, Abnormality of the lymphatic system, Depressed nasal ridge, Short nose, A... |
ORPHA:870 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Holoprosencephaly, Atrial septal defect, Ventriculomegaly |
ORPHA:261236 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Atrial septal... |
ORPHA:96121 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Hepatoblastoma, Spleno... |
OMIM:269150 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Hydrocephalus, Recurrent upper respiratory tract infections, Car... |
OMIM:253220 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, Hydrocephalus |
OMIM:618162 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Coarctation of aorta, Lateral ventricle dilatation, Pulmonary hypoplas... |
ORPHA:1692 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect |
ORPHA:166035 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:151100 |
Gillespie Syndrome |
|
Ventriculomegaly |
OMIM:206700 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Malar flattening, Short nose, Depressed nasal bridge |
OMIM:618590 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Hypertrophic cardiomyo... |
ORPHA:1340 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Aorti... |
OMIM:610443 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal h... |
ORPHA:354 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hydrocephalus, Abnormal aortic... |
ORPHA:579 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Short toe, Wide nasa... |
ORPHA:1519 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop... |
OMIM:100300 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly |
ORPHA:457284 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Azoospermia, Abnormal card... |
ORPHA:84 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Recurrent pneumonia, Ventricular septal defect, Ventriculomegaly |
OMIM:616449 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Hydrocephalus, Abnormal lung lobation |
ORPHA:3301 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3255 |
Gaisböck Syndrome |
|
Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Peripheral arterial s... |
ORPHA:90041 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Recurrent pneumonia, Mitral valve prolapse, Restrictive ventilatory defect, Aortic dissection, Ar... |
ORPHA:1900 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo... |
OMIM:616580 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul... |
OMIM:134780 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis, Ventriculomegaly |
OMIM:618222 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis |
OMIM:240300 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetralogy of Fa... |
OMIM:153400 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... |
ORPHA:3071 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hepatomegaly, Anteverted nares, Ventricular septal defect, Hepatoblastoma,... |
ORPHA:373 |
Menkes Disease |
|
Micrognathia, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid ... |
ORPHA:565 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:1358 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Recurrent respiratory infections |
ORPHA:217346 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Bicuspid aortic valve, V... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Bicuspid aortic valve, V... |
ORPHA:353277 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Recurrent respiratory infections, Tetralogy of Fallot, Ventricular sep... |
OMIM:174300 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
19P13.13 Microdeletion Syndrome |
|
Malar flattening, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:357001 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left heart, Atri... |
ORPHA:2473 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:2983 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, Apnea, Respiratory insufficiency, Micrognathia |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Ventricular septal defect, Partial anomalous pulmonary venous ... |
OMIM:301044 |
Coccidioidomycosis |
|
Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis... |
ORPHA:228123 |
Hurler Syndrome |
|
Cardiomyopathy, Hydrocephalus, Recurrent respiratory infections, Endocardial fibroelastosis |
OMIM:607014 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly |
OMIM:619074 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... |
ORPHA:227990 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus |
OMIM:207410 |
Plaa-Associated Neurodevelopmental Disorder |
|
Short nose, Apnea, Respiratory insufficiency, Micrognathia |
ORPHA:521426 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Hurler Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hydrocephalus, Cardiomyopathy,... |
ORPHA:93473 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly |
ORPHA:228308 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Depressed nasal bridge, Ventricular septal defect, ... |
OMIM:617140 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect |
OMIM:620073 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short hallux, Hypoplasia of the maxilla, Wide nasal bri... |
OMIM:608156 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic aneurysm, Mitral valve prolapse |
OMIM:182212 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary lymphangiectasi... |
ORPHA:1655 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Hydrocephalus |
OMIM:612940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventriculomegaly |
OMIM:618052 |
Fanconi Anemia, Complementation Group W |
|
Ventriculomegaly |
OMIM:617784 |
Pyruvate Carboxylase Deficiency |
|
Increased CSF alanine concentration, Increased CSF citrulline concentration, Cerebellar gliosis, ... |
ORPHA:3008 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Recurrent respiratory infections, Conotruncal defect |
OMIM:610253 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... |
ORPHA:227982 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Recurrent respiratory infections, Short metacarpal, Anteverted nares, Bulbou... |
OMIM:601358 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... |
ORPHA:93357 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal heart morphology, Asce... |
ORPHA:453499 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Ventriculomegaly |
ORPHA:289483 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Testicular ne... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Testicular ne... |
ORPHA:363958 |
Cutis Marmorata Telangiectatica Congenita |
|
Micrognathia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformation, Short lowe... |
ORPHA:1556 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617988 |
47,Xyy Syndrome |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Short nose, Retrognathia |
OMIM:601675 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:1834 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumothorax, Chylopericardium, Chy... |
ORPHA:538 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares |
OMIM:613735 |
Trisomy 20P |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:261318 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode, Pulmonary edema |
ORPHA:137675 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Micrognathia, Pericardial effusion, Prominent veins on trunk, Mitral val... |
ORPHA:536532 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... |
ORPHA:26793 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Myeloid leukemia, Broad nasal tip, Micrognathia,... |
ORPHA:798 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617164 |
Digeorge Syndrome |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Hydrocele ... |
OMIM:188400 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
1P31P32 Microdeletion Syndrome |
|
Ventriculomegaly |
ORPHA:401986 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the odontoid pr... |
OMIM:271665 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Microretrognathia, Abnormal pulmonary valve morphology, Persistence of pri... |
OMIM:200990 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Hydranencephaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Paten... |
OMIM:256520 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Ventriculomegaly |
OMIM:617903 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Phocomelia, Schinzel Type |
|
Micromelia, Aplasia of the ulna, Micrognathia, Hypoplasia of the radius, Aplasia/Hypoplasia of th... |
ORPHA:2879 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Lateral ventricle dilatation, Left superior vena ... |
ORPHA:464738 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Calcification of the aorta... |
ORPHA:2072 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
H Syndrome |
|
Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azoospermia, Varicose veins, Decreased test... |
ORPHA:168569 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Mitral valve prolapse |
OMIM:616202 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Wide nose, Choanal atresia, Micromelia, Micrognathia, Depressed... |
ORPHA:2753 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Neurofibromatosis, Type I |
|
Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Optic nerve glioma |
OMIM:162200 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Azoospe... |
OMIM:602782 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Subependymal cysts, Pulmonar... |
OMIM:214100 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly |
OMIM:614921 |
Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Coarctation of aorta, Abnormal cardiac septum morphology, Ventricu... |
ORPHA:2322 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Vent... |
ORPHA:1272 |
Bartsocas-Papas Syndrome 1 |
|
Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Underdeveloped n... |
OMIM:263650 |
Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Underdeveloped nasal alae, S... |
ORPHA:2729 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Wide nasal bridge, Malar flattening,... |
OMIM:601088 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurys... |
ORPHA:444072 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Choanal atresia, Atrial septal defect, Short nose |
ORPHA:3380 |
Pseudoaminopterin Syndrome |
|
Prominent nasal bridge, Micrognathia, Asplenia, Short thumb, Short 4th metacarpal, Patent foramen... |
ORPHA:221120 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Hydrocephalus, Abn... |
ORPHA:581 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Broad nasal tip, Carious teeth, Small hand, W... |
OMIM:615873 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect, Ventriculomegaly |
ORPHA:513456 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Tetralog... |
OMIM:154400 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Prominent nasal ... |
OMIM:619004 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Atrial ... |
ORPHA:904 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Atrial sept... |
OMIM:619512 |
Peters Plus Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Patent ductus art... |
ORPHA:709 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Dend Syndrome |
|
Short nose, Anteverted nares, Elevated hemoglobin A1c |
ORPHA:79134 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short metacarpal, Anteverted nares, Broad nasal tip, Hypoplasia of the odontoid process, Restrict... |
OMIM:272460 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate |
OMIM:620306 |
Distal Deletion 9P |
|
Short nose, Wide nasal bridge |
ORPHA:1642 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Spina b... |
OMIM:300373 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Coarctation o... |
ORPHA:508498 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Doors Syndrome |
|
Double outlet right ventricle, Spina bifida occulta, Dandy-Walker malformation, Aspiration pneumonia |
ORPHA:79500 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal lung... |
OMIM:270400 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmo... |
OMIM:610759 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Atrial septal defect, Prominent nasal tip, Short nose, Hyperventilation |
ORPHA:522077 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Hydrocephalus, Coa... |
OMIM:210710 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... |
OMIM:615287 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxill... |
OMIM:305100 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly |
OMIM:606232 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma |
ORPHA:637 |
Atypical Werner Syndrome |
|
Short palm, Hepatic steatosis, Prominent superficial veins, Abnormal cerebral vascular morphology... |
ORPHA:79474 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology |
OMIM:227646 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Lateral ventricle dilatation, Ventricular septal de... |
OMIM:619229 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Depressed nasal bridge, Transient ischemic attack, ... |
ORPHA:500150 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology |
OMIM:305450 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Tricuspid val... |
ORPHA:261337 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... |
ORPHA:2092 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus |
OMIM:102500 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Dandy-Walker mal... |
ORPHA:401973 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Short foot, Short nose |
OMIM:227330 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus |
ORPHA:157 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Stroke |
ORPHA:79282 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Micrognathia, Short foot, Short nose |
ORPHA:1974 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Stickler Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Abnormal dental ename... |
ORPHA:828 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, Cardiomyopathy, Cervical ... |
OMIM:253200 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, P... |
OMIM:607872 |
Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Patent ductus arter... |
ORPHA:955 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose |
OMIM:602875 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus |
OMIM:620351 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3412 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Supernumerary toot... |
ORPHA:3107 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Truncus arteri... |
ORPHA:261330 |
Zellweger Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:912 |
Costello Syndrome |
|
Ventricular septal defect, Hydrocephalus, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:218040 |
Warburg Micro Syndrome 2 |
|
Short nose, Prominent nasal bridge |
OMIM:614225 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Prominent nasal bridge, Abnormal pulmonary valve morphology, Broad nas... |
ORPHA:268261 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Pe... |
OMIM:180700 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Mitral valve prolapse, Abnormal aortic valve morphol... |
ORPHA:2462 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Broad nasal tip, Retinal arterio... |
OMIM:194050 |
Vascular Ehlers-Danlos Syndrome |
|
Narrow nasal bridge, Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic at... |
ORPHA:286 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephal... |
ORPHA:666 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short metatarsal, Wi... |
OMIM:617157 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:2719 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... |
ORPHA:1199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Ventricular septal defect, Broad nasal tip, Long nose, Short thumb, Bulbous nos... |
OMIM:619522 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Abnormal lung lobation |
OMIM:617667 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent upper and lower respiratory tract ... |
ORPHA:79329 |
Codas Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Atrioventricular canal defect, V... |
OMIM:600373 |
Coloboma, Ocular, Autosomal Dominant |
|
Ventriculomegaly |
OMIM:120200 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary airway malforma... |
OMIM:243150 |
Medulloblastoma |
|
Neoplasm of the lung, Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Micrognathia, Broad nasal tip |
ORPHA:293948 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Dandy-Walker malformation |
OMIM:605039 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... |
OMIM:229400 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Increased CSF lactate |
OMIM:614947 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Retrognathia |
OMIM:619426 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Malar flattening, Short nose, Depressed nasal bridge |
OMIM:601353 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Malar flattening, Short ... |
ORPHA:261112 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Vascular dilatation, Abnormal heart morphology |
OMIM:311200 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Ventricular septal defect, Pat... |
ORPHA:672 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Pneumothorax, Mitral valve prolapse, Short columella, Tricuspid valve prolapse... |
OMIM:601776 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Pulmonary artery stenosis, Recurrent respiratory infections, Abnormal pulmonary va... |
ORPHA:667 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... |
OMIM:164210 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation |
OMIM:607323 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short nose |
ORPHA:1394 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus |
ORPHA:220295 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Ventriculomegaly |
ORPHA:251014 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Bulbous nose, Jaundice, Wide ... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Broad nasal tip, Asthma, Recurrent pneumonia, W... |
OMIM:620330 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617798 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Lateral ventricle... |
OMIM:147920 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Ventricular septal defect |
OMIM:619306 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
Tbck-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Ventriculomegaly, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Carious teeth, Splenomegal... |
ORPHA:93 |
Larsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane... |
OMIM:150250 |
Achondroplasia |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:100800 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Aortic valve stenosis, Ventr... |
ORPHA:464311 |
Perlman Syndrome |
|
Cryptorchidism, Interrupted aortic arch |
OMIM:267000 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Cardiomyopathy, Renal art... |
ORPHA:3472 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:263520 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Stroke, Abnormal cerebral vascular morphology |
ORPHA:3205 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, U... |
OMIM:613406 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Micrognathia, Broad nasal tip, Bulbous nose, Small hand, Short foot, Shor... |
OMIM:309590 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, Cryptorchidism, Cardiomyopathy,... |
ORPHA:33364 |
Mend Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Short nose, Rhizomelia, Wide nasal bridge |
ORPHA:319182 |
Cohen Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Narrow nasal ridge, Pleural effus... |
OMIM:606721 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Anteverted nares, Short palm |
ORPHA:3339 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Holo... |
ORPHA:818 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Short metacarpal, Hypoplastic scapulae, Depressed nasal bridge, Choanal atresia, Bulbous nose, Sh... |
ORPHA:95699 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... |
ORPHA:363700 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Short nose |
OMIM:614863 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microgn... |
OMIM:618332 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Holoprosencephaly 3 |
|
Holoprosencephaly, Ventriculomegaly |
OMIM:142945 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Atrial s... |
OMIM:274000 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Short metacarpal, Anteverted nares, Dental malocclusion, Thick ... |
OMIM:303600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect |
OMIM:257920 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate |
ORPHA:506 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Aortic valve stenosis, Ventr... |
ORPHA:464306 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Cryptorchidism, Colpocephaly, Ventricular septal defect |
OMIM:614866 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Fryns Syndrome |
|
Ventricular septal defect, Cryptorchidism, Stillbirth, Pulmonary hypoplasia, Chylothorax, Atrial ... |
OMIM:229850 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale, Ventri... |
OMIM:616975 |
Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:3047 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... |
ORPHA:2556 |
Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Pulmon... |
OMIM:219000 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short nose, Depressed nasal bridge, Convex nasal ridge |
OMIM:300661 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Opitz Gbbb Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:300000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:261537 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Pulmonary lymph... |
ORPHA:805 |
Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Spinal dysraphism, Abn... |
OMIM:114290 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct... |
OMIM:139210 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Ventricular septal defect, Ventriculomegaly |
OMIM:619418 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, ... |
ORPHA:2152 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular... |
ORPHA:199 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal heart morphology, Atri... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal heart morphology, Atri... |
ORPHA:352665 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:607721 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic root aneurysm, Spina bifid... |
OMIM:135500 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Ulnar-Mammary Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3138 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Ab... |
ORPHA:466791 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, ... |
OMIM:245150 |
Chromosome 13Q14 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Patent foramen ovale, Holoprosencephaly |
OMIM:613884 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... |
OMIM:107480 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Chylot... |
OMIM:163950 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
Hardikar Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P... |
OMIM:301068 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arte... |
ORPHA:434179 |
Mosaic Trisomy 20 |
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Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... |
ORPHA:1724 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:93924 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Cryptorchidism, Patent ductus arteriosus, Pulm... |
OMIM:235730 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Penile Agenesis |
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Ventricular septal defect, Depressed nasal bridge, Bilateral lung agenesis, Pulmonary hypoplasia,... |
ORPHA:49 |
Pallister-Killian Syndrome |
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Micrognathia, Apneic episodes in infancy, Short palm, Atrial septal defect, Hyperventilation, Dep... |
OMIM:601803 |
Cryptococcosis |
|
Pleural effusion, Hydrocephalus, Pneumonia, Nodular pattern on pulmonary HRCT |
ORPHA:1546 |
Teebi-Shaltout Syndrome |
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Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
1P36 Deletion Syndrome |
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Aortic arch aneurysm, Abnormal heart valve morphology, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:1606 |
Fanconi Anemia, Complementation Group C |
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Cryptorchidism, Ventricular septal defect |
OMIM:227645 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Diamond-Blackfan Anemia |
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Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... |
ORPHA:124 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
Diamond-Blackfan Anemia 1 |
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Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Spina ... |
OMIM:105650 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... |
ORPHA:276280 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Dilatation of the ... |
OMIM:304120 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Eisenmenger Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
Arboleda-Tham Syndrome |
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Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Bilat... |
OMIM:616268 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Genitourinary And/Or Brain Malformation Syndrome |
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Aplasia of the nasal bone, Short nose, Micrognathia |
OMIM:618820 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Cryptorchidism, Dilatation of the ventricular cavity, Pulmonary artery... |
ORPHA:459070 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hol... |
OMIM:615948 |
Cornelia De Lange Syndrome 1 |
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Cryptorchidism, Ventricular septal defect, Pneumonia |
OMIM:122470 |
Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Atrial septal defect, Ventriculomegaly |
OMIM:194190 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect... |
OMIM:264090 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Anomalous origin of left subcla... |
ORPHA:438213 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
C Syndrome |
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Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Short nose |
ORPHA:1308 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Cryptorchidism, Hydrocephalus |
ORPHA:1106 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Fetal Akinesia Deformation Sequence 1 |
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Cryptorchidism, Hydrocephalus, Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Cryptorchidism, Patent ductus arteriosus, Mild fetal ventriculomegal... |
OMIM:619841 |
Holoprosencephaly 9 |
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Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
Peters-Plus Syndrome |
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Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pulmonic sten... |
OMIM:261540 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Short nose, Hepatic steatosis, Convex nasal ridge |
OMIM:619321 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encep... |
OMIM:268300 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus |
OMIM:619325 |
Cockayne Syndrome A |
|
Cryptorchidism, Normal pressure hydrocephalus, Persistent left superior vena cava, Ventriculomegaly |
OMIM:216400 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly, Ventriculomegaly |
ORPHA:141099 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Congenital pulmonary airway malformation |
ORPHA:436252 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:135900 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus |
ORPHA:2658 |
Liver Disease, Severe Congenital |
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Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Dilatation of the ve... |
OMIM:619991 |
Neurofibromatosis Type 1 |
|
Hydrocephalus, Astrocytoma |
ORPHA:636 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus |
ORPHA:309282 |
Hyperoxaluria, Primary, Type I |
|
Peripheral arterial stenosis |
OMIM:259900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint... |
ORPHA:881 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117650 |
Meningioma |
|
Hydrocephalus, Cerebral hemorrhage |
ORPHA:2495 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Abnormal heart morphology |
OMIM:218600 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Cryptorchidism, Congenital malformation of the left heart, Hydrocephalus, ... |
ORPHA:3455 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele |
ORPHA:573278 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Oeis Complex |
|
Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Genitopatellar Syndrome |
|
Ventricular septal defect, Cryptorchidism, Colpocephaly, Pulmonary hypoplasia, Atrial septal defect |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus |
OMIM:133540 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Small cell lung carcinoma, A... |
ORPHA:821 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:305600 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fal... |
OMIM:216340 |