Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... |
OMIM:231060 |
Lissencephaly 5 |
|
Leukoencephalopathy, Hydrocephalus, Macrocephaly, Hypoplasia of the corpus callosum, Type II liss... |
OMIM:615191 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Microcephaly, Anencephaly, Agenesis of cerebellar vermis, Hypoplasia of the corpus... |
OMIM:611134 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, Abnormal cerebral white ma... |
ORPHA:352682 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
OMIM:604213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Renal dysplasi... |
OMIM:615287 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Short stature, Micrognathia, Microcephaly, Anencephaly, Aplasia... |
ORPHA:1908 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
Frontal Encephalocele |
|
Hydrocephalus, Macrocephaly, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypopla... |
ORPHA:1931 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Cerebral cortical atrophy, Renal hypoplasia/aplasia, Holoprosencephaly, Micrognathia, Microcephal... |
ORPHA:2570 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum,... |
ORPHA:1528 |
Lissencephaly 8 |
|
Hypoplasia of the brainstem, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
OMIM:617255 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Macrocephaly, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker m... |
OMIM:617967 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Macrocephaly at birth, Type II lissencephaly, Ventriculomegaly, Cerebellar malform... |
ORPHA:324416 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior c... |
OMIM:617542 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Dilated fourth ventricle, Anencephaly, Malformation of the hepatic ducta... |
OMIM:614175 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Abnormal ethmoid bone morphology, Polymicrogyria, Partial agenesis of the corpu... |
ORPHA:101030 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:217 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Meckel Syndrome 13 |
|
Micrognathia, Cerebellar hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar ... |
OMIM:617562 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly |
ORPHA:945 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dysgenesis of the cerebellar vermis, Rhizomelic arm shortening, Abnormal cerebellum morphology, A... |
ORPHA:397715 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Diffuse white matter abnormalities, Microcephaly, ... |
ORPHA:370959 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Occipital encephalocele, Periportal fibrosis, Agenesis of cere... |
OMIM:213010 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Microcephaly, Rhombencephalosynapsis, Hypoplasia of the pons, Abnorma... |
ORPHA:280195 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesi... |
OMIM:218670 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Renal cyst, Meningocele, Bile duct proliferation, Encephalocele, Intrauterine growth... |
OMIM:603194 |
Neurocutaneous Melanocytosis |
|
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Chiari malforma... |
ORPHA:2481 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Chiari malformation, Syringomyelia, Spina bifida, Agenesis of co... |
OMIM:207950 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia,... |
ORPHA:1136 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly |
ORPHA:588 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Urinary incontinence |
OMIM:182940 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Macrocephaly, Hypothalamic hamartoma, Micropenis, Micrognathia, Renal dysplasia, D... |
OMIM:241800 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Triploidy |
|
Hydrocephalus, Macrocephaly, Hepatomegaly, Hypoplasia of penis, Holoprosencephaly, Hypospadias, M... |
ORPHA:3376 |
Microhydranencephaly, X-Linked |
|
Microcephaly, Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Microcephaly, Semilo... |
OMIM:609637 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI... |
OMIM:611560 |
Distal Monosomy 13Q |
|
Renal hypoplasia/aplasia, Holoprosencephaly, Short stature, Microcephaly, Anencephaly, Encephaloc... |
ORPHA:1590 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Macrocephaly, Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpu... |
ORPHA:300570 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Macrocephaly, Microretrognathia, Dilated fourth ventricle, Partial absence of cere... |
OMIM:220220 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Chiari malformation, Frontal encephalocele |
ORPHA:261102 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation, Hypoplasia of the ... |
OMIM:164180 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Joubert Syndrome 14 |
|
Hydrocephalus, Malar flattening, Renal cyst, Growth delay, Encephalocele, Dandy-Walker malformation |
OMIM:614424 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Aplasia/Hypoplasia of the cerebellar vermis, Nep... |
OMIM:216360 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Ventriculom... |
ORPHA:2031 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... |
ORPHA:1727 |
Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, Agenesis... |
OMIM:603671 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly |
ORPHA:2523 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Neonatal death, Cerebellar hypoplasia, Ureteral agenesis, Renal dysplasia, Ren... |
OMIM:236500 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia |
OMIM:183802 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Microcephaly, Encephalocele |
OMIM:200130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Encephalocele, Pachygyria, Microcephaly, Partial absence of cerebellar vermis, Cer... |
OMIM:613150 |
Acromelic Frontonasal Dysplasia |
|
Hypoplasia of the olfactory bulb, Choroid plexus cyst, Ventriculomegaly, Meningocele, Encephaloce... |
ORPHA:1827 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Biparietal narrowing, Nephropathy, Polymicrogyria, Cerebellar vermis hypoplasia, R... |
ORPHA:220497 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of th... |
ORPHA:2117 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Ventriculomegaly, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidne... |
OMIM:612285 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Macrocephaly,... |
OMIM:608091 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Macrocephaly, Hypospadias, Microcephaly, Dilated fourth ventricle, Dysgenesis of the cerebellar v... |
OMIM:617751 |
Pseudoprogeria Syndrome |
|
Short stature, Microcephaly, Cranium bifidum occultum, Spinal arachnoid cyst, Growth delay |
ORPHA:2985 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Arima Syndrome |
|
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Aplasia/Hypoplasia of the cerebellar ... |
OMIM:243910 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts |
OMIM:600666 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Macrocephaly, Short stature, Holoprosencephaly, Abnormality of the kidney, Ventric... |
ORPHA:93274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Macrocephaly, Pachygyria, Retrognathia, Optic nerve hypoplasia, Cerebellar hypopla... |
OMIM:614643 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Humero-Radial Synostosis |
|
Microcephaly, Meningocele |
ORPHA:3265 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal ... |
OMIM:136760 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Leber Congenital Amaurosis |
|
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Vissers-Bodmer Syndrome |
|
Short stature, Intrauterine growth retardation, Decreased head circumference, Holoprosencephaly |
OMIM:619033 |
Oculoauriculofrontonasal Syndrome |
|
Macrocephaly, Micrognathia, Microcephaly, Encephalocele, Pericallosal lipoma |
ORPHA:398156 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Short stature, Cerebral calcification, Micrognathia, Microcephaly, Multicystic ... |
ORPHA:1393 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Biparietal narrowing, Nephropathy, Cerebellar vermis hypoplasia, Renal insufficien... |
ORPHA:2318 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Biparietal narrowing, Hepatic failure, Cerebral calcification,... |
ORPHA:46059 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Cocaine Embryofetopathy |
|
Encephalocele, Abnormality of the urinary system |
ORPHA:1911 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Nephroblastoma |
ORPHA:2128 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Macrocephaly, Microcephaly, Nephropathy, Dysgenesis of th... |
OMIM:213300 |
Schisis Association |
|
Renal agenesis, Microcephaly, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Encephalocele, Hyperechogenic kidneys |
OMIM:613885 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal pla... |
OMIM:607361 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short stature, Holoprosencephaly, Micrognathia, Microcephaly |
ORPHA:1636 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Nephroblastoma |
OMIM:235000 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Microcephaly, Agenesis of corpus callosum, Micropenis, Holoprosencephaly |
OMIM:610680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Micrognathia, Microcephaly, Optic nerve hypoplasia, Cerebellar hypoplasia, Hypopla... |
OMIM:236670 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... |
OMIM:613095 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... |
ORPHA:2182 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Micrognathia, Microcephaly, Organic aciduria, Cerebellar vermis hypoplasia, Lissenc... |
ORPHA:99742 |
Caudal Duplication |
|
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication, Spin... |
ORPHA:1756 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Macrocephaly, Short stature, Hypospadias, Microcephaly, Abnormality of the ureter, Spina bifida o... |
ORPHA:2311 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Micrognathia, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of ... |
OMIM:614120 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Alobar holoprosencephaly, Ventriculomegaly, Micropenis |
OMIM:615433 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Agenesis of cerebell... |
ORPHA:228390 |
Ring Chromosome 21 Syndrome |
|
Azoospermia, Microcephaly, Short stature, Holoprosencephaly |
ORPHA:1445 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Biparietal narrowing, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele,... |
ORPHA:220493 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Tethered cord, Enuresis, Neural tube defect, Increased head... |
ORPHA:268810 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation |
ORPHA:1914 |
Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:614226 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Diastomatomyelia, Meningocele |
ORPHA:1759 |
Parietal Foramina 1 |
|
Encephalocele, Macrocephaly |
OMIM:168500 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Orofaciodigital Syndrome I |
|
Hydrocephalus, Hypothalamic hamartoma, Ovarian cyst, Hepatic cysts, Carious teeth, Proteinuria, P... |
OMIM:311200 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Frontal encephalocele |
ORPHA:521308 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele, Pachygyria, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:253800 |
Lateral Meningocele Syndrome |
|
Malar flattening, Short stature, Micrognathia, Dural ectasia, Umbilical hernia, Meningocele, Syri... |
OMIM:130720 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Micropenis, Renal agenesis, Microcephaly, Cerebellar hypoplasia... |
OMIM:264480 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Arachnoid Cyst |
|
Urinary bladder sphincter dysfunction, Hydrocephalus, Abnormal cerebellum morphology, Holoprosenc... |
ORPHA:2356 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Congenital megaureter, Micrognathia, Abnormality of the urinary ... |
ORPHA:2437 |
Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Neoplasm of the liver, Hepatomegaly, Macrocephaly, Biparietal narrowing, Intrahepa... |
ORPHA:1454 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Micrognathia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencepha... |
OMIM:225790 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Microcephaly, Hypoplasia of the maxilla, Cerebellar atrophy, Periventricular leuko... |
OMIM:618302 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Renal agenesis, Anencephaly, Spinal dysraphis... |
ORPHA:63259 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... |
OMIM:263200 |
Coach Syndrome 2 |
|
Hydrocephalus, Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase... |
OMIM:619111 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia,... |
ORPHA:990 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Short stature, Hypospadias, Microcephaly, Postnatal growth retardation, Microph... |
ORPHA:94065 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macrocephaly, Holoprosencephaly |
OMIM:300706 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Pachygyria, Lobar ho... |
ORPHA:468631 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Occipital encephalocele, Encephalomalacia |
ORPHA:60015 |
Lateral Meningocele Syndrome |
|
Malar flattening, Micrognathia, Dural ectasia, Chiari malformation, Umbilical hernia, Meningocele... |
ORPHA:2789 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short stature, Hypospadias, Microcephaly, Micrognathia, Anencephaly, Delayed eruption of teeth, A... |
OMIM:619148 |
49,Xxxxy Syndrome |
|
Abnormal dental enamel morphology, Taurodontia, Renal hypoplasia/aplasia, Hypoplasia of penis, Ho... |
ORPHA:96264 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Cerebellar atrophy, Global brai... |
OMIM:618276 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Isomerism, Transposition of the... |
OMIM:314390 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Abnormal cerebellum morphology, Malar flattening, Holoprosencephaly, Micropenis, H... |
OMIM:612651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Pachygyria, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Age... |
OMIM:613153 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Coarctation... |
ORPHA:3426 |
Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agen... |
OMIM:600348 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, Decrease... |
ORPHA:500166 |
Joubert Syndrome |
|
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Biparietal narrowing,... |
ORPHA:475 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... |
OMIM:619302 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Hydrocephalus, Renal hypoplasia/aplasia, Hypoplasia of penis, Holop... |
ORPHA:2166 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Absent septum pellucidum, Anterior encephalocele, Holoprosencephaly |
OMIM:601357 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Short stature |
OMIM:613686 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Spina bifida, Meningocele |
ORPHA:894 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Relative macrocephaly, Cerebellar hypoplasia, Renal cyst, Renal hypoplasia, Rh... |
OMIM:616300 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal hypothalamus morphology, Short stature, Retrognathia, Microcephaly,... |
ORPHA:314621 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar ve... |
OMIM:300864 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Pat... |
ORPHA:391641 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
Holoprosencephaly 14 |
|
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Mi... |
OMIM:619895 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
Monosomy 18P |
|
Short stature, Holoprosencephaly, Micrognathia, Microcephaly, Carious teeth |
ORPHA:1598 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:1166 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Absent gallbladder... |
OMIM:612284 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Miscarriage, Severe short stature, Micrognathia, Microcephaly, Encephalocele |
ORPHA:1865 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Card... |
OMIM:306955 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Pagod Syndrome |
|
Renal hypoplasia/aplasia, Short stature, Microcephaly, Multicystic kidney dysplasia, Death in inf... |
ORPHA:991 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Abnormality of the ureter, Anencephaly, Malformation of the hepatic ductal plate, ... |
OMIM:249000 |
Griscelli Syndrome |
|
Hydrocephalus, Hepatomegaly, Short stature, Hepatitis, Encephalocele, Jaundice |
ORPHA:381 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... |
OMIM:265380 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Intrauterine growth retardation, Dysplastic corpus callosum, Abnormal cerebellar vermis morpholog... |
ORPHA:357058 |
Masa Syndrome |
|
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus ca... |
OMIM:303350 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Micrognathia, Microcephaly, Dilated fourth ventricle, Cerebe... |
ORPHA:3078 |
Microhydranencephaly |
|
Short stature, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Growth delay, Pachygyria, H... |
OMIM:605013 |
Trisomy 18 |
|
Microretrognathia, Holoprosencephaly, Short stature, Abnormality of the upper urinary tract, Micr... |
ORPHA:3380 |
Distal Tetrasomy 15Q |
|
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pat... |
ORPHA:314588 |
Lambotte Syndrome |
|
Retrognathia, Microcephaly, Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:245552 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hydrocephalus, Malar flattening, Hypospadias, Micrognathia, Ureteral obstructio... |
ORPHA:90652 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:612530 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... |
OMIM:614831 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cere... |
ORPHA:1532 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Macrocephaly, Malar flattening, Optic nerve hypoplasia, Hypoplasia of the corpus c... |
OMIM:605627 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... |
ORPHA:77298 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Cerebral atrophy, Microcephaly, Renal duplication, Spina bifida occulta, P... |
OMIM:267750 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... |
OMIM:618280 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Macrocephaly, Hepatomegaly, Periportal fibrosis, Holoprosencephaly, Cystic renal d... |
OMIM:269860 |
Frontorhiny |
|
Basal encephalocele, Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the max... |
ORPHA:391474 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Abnormal periventricular white matter mor... |
OMIM:615960 |
Pai Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:1993 |
Meckel Syndrome |
|
Hydrocephalus, Urethral atresia, Micrognathia, Microcephaly, Multicystic kidney dysplasia, Anence... |
ORPHA:564 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... |
OMIM:611773 |
Frontofacionasal Dysplasia |
|
Hypoplasia of olfactory tract, Encephalocele, Hypoplasia of the corpus callosum, Short stature |
ORPHA:1791 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Vacterl/Vater Association |
|
Intrauterine growth retardation, Hypoplasia of penis, Renal agenesis, Hypospadias, Multicystic ki... |
ORPHA:887 |
Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Hyperechogenic kidneys, Hypoplasia of the corpus callosum... |
OMIM:615636 |
Frontonasal Dysplasia 2 |
|
Microcephaly, Agenesis of cerebellar vermis, Hypoplasia of the corpus callosum, Cerebellar vermis... |
OMIM:613451 |
Adams-Oliver Syndrome |
|
Hydrocephalus, Cirrhosis, Congenital hepatic fibrosis, Porencephalic cyst, Portal hypertension, E... |
ORPHA:974 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Short stature, Renal agenesis, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Simplified ... |
OMIM:617090 |
Halperin-Birk Syndrome |
|
Intrauterine growth retardation, Micrognathia, Death in childhood, Ventriculomegaly, Umbilical he... |
OMIM:618651 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Neonatal short-limb short stature, Severe short stature, Malar flattening, Microgn... |
OMIM:224400 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... |
ORPHA:370022 |
Lathosterolosis |
|
Myelomeningocele, Cerebral atrophy, Micrognathia, Hepatosplenomegaly, Microcephaly, Elevated hepa... |
OMIM:607330 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Renal dysplasia, Absent gallbladder, Enc... |
ORPHA:1335 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Mandibular aplasia, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:202650 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Enlarged kidney, Situs inversus totalis, Hepatic cys... |
OMIM:208540 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Holoprosencephaly, Short stature, Renal agenesis, Microcephaly, Intrauterine... |
ORPHA:280200 |
Zaki Syndrome |
|
Short stature, Renal agenesis, Micrognathia, Microcephaly, Dilated fourth ventricle, Hypoplasia o... |
OMIM:619648 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Holoprosencephaly |
|
Hydrocephalus, Macrocephaly, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Spinal cord tu... |
ORPHA:2162 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot |
ORPHA:251076 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Short stature, Dilated fourth ventricle, Diffuse cerebral atrophy, Cer... |
ORPHA:1170 |
Split Cord Malformation |
|
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Tethered cord, Hypospadias, Spinal cord t... |
ORPHA:573278 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Holoprosencephaly, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:261236 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly |
OMIM:300073 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Microcephaly, Renal insufficiency, Holoprosencephaly |
ORPHA:2165 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... |
OMIM:615415 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Hepatomegaly, Hypoplasia of the corpus callosum, Intrauterine growth retardation, ... |
OMIM:270400 |
Slc35A2-Cdg |
|
Cerebral atrophy, Transient nephrotic syndrome, Short stature, Microcephaly, Cortical dysplasia, ... |
ORPHA:356961 |
Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly, Short stature, Micrognathia, Microcephaly, Multicystic kidney dysplasia, Nephr... |
ORPHA:1052 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Macrocephaly, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Molar tooth sig... |
ORPHA:166024 |
Velocardiofacial Syndrome |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Int... |
OMIM:192430 |
Developmental And Epileptic Encephalopathy 99 |
|
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Atrophy/Degeneration affecting t... |
OMIM:619606 |
Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Hypospadias |
ORPHA:3242 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Supernumerary tooth, Holoprosencephaly, Micropenis, Micrognathia, Microcephaly... |
OMIM:615948 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:619054 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Isolated Exencephaly |
|
Abnormal facial skeleton morphology, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hyp... |
ORPHA:563612 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Long penis, Polycystic kidney dysplasia, Abnormal localiz... |
ORPHA:1988 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Intrauterine growth retardation, Hydrocephalus, Abnormal dental enamel morphology... |
ORPHA:567 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Nephronophthisis, Dilated fourth ventricle, Enlarged foss... |
OMIM:610688 |
Rare Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Hypoplastic hi... |
ORPHA:101685 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... |
ORPHA:2255 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Aplasia/Hypoplasia of the cerebellar ... |
OMIM:610188 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... |
ORPHA:477817 |
Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth s... |
OMIM:619562 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Holoprosence... |
OMIM:610828 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Pachygyria, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Po... |
ORPHA:2211 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Dysplastic corpus callosum, Macrocephaly, Holoprosencephaly, M... |
OMIM:618820 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Leukoencephalopathy, Death in childhood, Myelopathy, Cerebellar edema, Cerebral white matter atro... |
OMIM:617186 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Microcephaly, Short stature, Holoprosencephaly |
ORPHA:2163 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Meckel Syndrome 14 |
|
Microretrognathia, Holoprosencephaly, Retrognathia, Micrognathia, Polycystic kidney dysplasia, He... |
OMIM:619879 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting system morphology... |
OMIM:113650 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Ventriculomeg... |
ORPHA:85179 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Phaver Syndrome |
|
Myelomeningocele, Intrauterine growth retardation |
ORPHA:2876 |
Trisomy 17P |
|
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... |
ORPHA:261290 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Retrognathia, Micrognathia, Agenesis of cerebellar vermis, Abnormal brainstem morp... |
ORPHA:163961 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly... |
ORPHA:255182 |
Fetal Encasement Syndrome |
|
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot |
OMIM:613630 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot |
ORPHA:1919 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Holoprosencephaly, Hypothalamic hamartoma, Hydroureter, ... |
OMIM:146510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Hepatomegaly, Microcephaly, Death in childhood, Dilated fourth ventricle, Cer... |
OMIM:212065 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Renal cyst, Pachygyria, Colpocephaly |
OMIM:614870 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy |
OMIM:613807 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Hydrocephalus, Tethered cord, Meningocele, Urinary retention, Myeloschisis, Hyd... |
OMIM:600145 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... |
OMIM:619902 |
Trisomy 8Q |
|
Myelomeningocele, Displacement of the urethral meatus, Micrognathia, Hypoplasia of penis |
ORPHA:1752 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Multiple gastric polyps, Stomach cancer, J... |
ORPHA:480536 |
Exostoses, Multiple, Type Ii |
|
Short stature, Cervical myelopathy |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short stature, Cervical myelopathy |
OMIM:133700 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Postnatal growth retardation, Short stature, Micrognathia, Microcephaly, Optic nerve hypoplasia, ... |
OMIM:300749 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c... |
OMIM:618736 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Diabetic Embryopathy |
|
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Micrognathia, Microcephaly, Ureteral duplica... |
ORPHA:1926 |
Cloacal Exstrophy |
|
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... |
ORPHA:93929 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Hydrocephalus, Malar flattening, Micropenis, Short stature, Hypospadias, Mic... |
OMIM:257300 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Malar flattening, Short stature, Hypospadias, Hypoplasia of the corpus callosum, H... |
OMIM:218350 |
1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Short stature, Holoprosencephaly |
ORPHA:250999 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Ce... |
ORPHA:572798 |
Solitary Median Maxillary Central Incisor |
|
Microcephaly, Short stature, Holoprosencephaly |
OMIM:147250 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Intrauterine growth retardation, Macrocephaly, Short stature, Hypospadias, Microcephaly, Microgna... |
OMIM:616975 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Macrocephaly, Malar flattening, Short stature, Hypoplasia of the maxilla, Ventricu... |
OMIM:109120 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Holoprosencephaly 9 |
|
Dental malocclusion, Hydrocephalus, Hypoplasia of the premaxilla, Malar flattening, Holoprosencep... |
OMIM:610829 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... |
OMIM:300712 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Short stature |
ORPHA:251347 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Advanced eruption of teeth, Rhizomelia, Intrauterine growth... |
ORPHA:818 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Abnormal basal ganglia morphology, Hepatomegaly, Hepatic failure, Hepatic calcific... |
ORPHA:157 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Cerebellar hypoplasia, Ventricul... |
OMIM:613730 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Death in childhood, Microcephaly, Abnormal dentate nucleus morphology, Partial agenesis of the co... |
OMIM:619517 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Dilated... |
OMIM:608836 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... |
ORPHA:244 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Atelosteogenesis, Type I |
|
Disproportionate short-limb short stature, Malar flattening, Micrognathia, Neonatal death, Rhizom... |
OMIM:108720 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short stature, Microcephaly, Ventriculomegaly, Enamel agenesis, Lobar holoprosencephaly |
OMIM:614701 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Abnormality of the kidney, Short umbilical cord, Anencephaly, Sp... |
ORPHA:2369 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus, Vesicovaginal fistula, Tethered cord, Micropenis, Renal agenesis... |
OMIM:258040 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic ... |
ORPHA:250989 |
Craniosynostosis 6 |
|
Microcephaly, Spina bifida occulta, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker... |
OMIM:616602 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... |
ORPHA:276244 |
Holoprosencephaly 3 |
|
Malar flattening, Holoprosencephaly, Microcephaly, Ventriculomegaly, Hydronephrosis |
OMIM:142945 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... |
OMIM:617056 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hy... |
OMIM:615181 |
Lumbar Syndrome |
|
Myelomeningocele, Micropenis, Renal agenesis, Hypospadias, Renal duplication, Bladder exstrophy, ... |
ORPHA:83628 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... |
ORPHA:2970 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Abnormal co... |
ORPHA:2524 |
Trisomy 1Q |
|
Hydrocephalus, Macrocephaly, Microretrognathia, Congenital megaureter, Multicystic kidney dysplas... |
ORPHA:261344 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Hypoplasia of the pons, Cortic... |
ORPHA:300573 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Hypospadias, Short uvula, Renal cyst, Polycystic kidney dysplasia, Ren... |
OMIM:614091 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract... |
ORPHA:276241 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Meningocele, Disproportionate short stature, Intrauterine grow... |
ORPHA:2879 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricular septal defect... |
ORPHA:163979 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... |
ORPHA:2326 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Abnormal... |
ORPHA:477774 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Cerebral cortical atrophy, Renal hypoplasia/aplasia, Short stature, Micrognathia, ... |
ORPHA:1834 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly, Hydronephrosis, Molar tooth sign on MRI |
OMIM:617127 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Hypoplasia of the zygomatic bone, Absent gallbladder, Semilobar holoprosenceph... |
ORPHA:556955 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Malar flattening, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla,... |
ORPHA:93262 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Dental malocclusion, Hydrocephalus, Short stature, Microcephaly, Ureteral dupli... |
OMIM:305600 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Glutari... |
OMIM:231680 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... |
ORPHA:1505 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... |
ORPHA:26791 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Macrocephaly, Cerebral atrophy, Cerebellar hypop... |
OMIM:616900 |
Joubert Syndrome 10 |
|
Growth delay, Cerebellar vermis hypoplasia, Macrocephaly, Molar tooth sign on MRI |
OMIM:300804 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Hypospadias, Methylmalonic aciduria, Coarctation of ... |
ORPHA:17 |
Jacobsen Syndrome |
|
Hydrocephalus, Macrocephaly, Holoprosencephaly, Hypospadias, Microcephaly, Micrognathia, Intraute... |
OMIM:147791 |
Triopia |
|
Encephalocele, Macrocephaly |
ORPHA:3374 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy |
OMIM:252650 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Nevus Comedonicus Syndrome |
|
Microcephaly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Colon cancer |
OMIM:135150 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Hypoplasia of the corpus... |
OMIM:619306 |
Spinocerebellar Ataxia 2 |
|
Urinary bladder sphincter dysfunction, Dilated fourth ventricle, Olivopontocerebellar atrophy, Ce... |
OMIM:183090 |
Chromosome 13Q14 Deletion Syndrome |
|
Absent septum pellucidum, Holoprosencephaly, Micropenis, Micrognathia, Hypoplasia of the corpus c... |
OMIM:613884 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology |
OMIM:214110 |
Bresek Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia ... |
ORPHA:85284 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Waardenburg Syndrome |
|
Myelomeningocele |
ORPHA:3440 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
Marden-Walker Syndrome |
|
Hydrocephalus, Abnormality of the upper urinary tract, Abnormal cerebellar vermis morphology, Int... |
ORPHA:2461 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Short stature, Microcephaly, Abnormality of dental eruption, Mandibular prog... |
ORPHA:1327 |
Perlman Syndrome |
|
Nephrogenic rest, Nephroblastoma, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch |
OMIM:267000 |
Charge Syndrome |
|
Intrauterine growth retardation, Aqueductal stenosis, Holoprosencephaly, Micropenis, Short statur... |
ORPHA:138 |
Joubert Syndrome 22 |
|
Temporal cortical atrophy, Agenesis of cerebellar vermis, Hypoplasia of the corpus callosum, Rena... |
OMIM:615665 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebral cortical atrophy, Short stature, Micrognathia, Microcephaly, Polymicrogyria, Hypoplasia ... |
OMIM:618454 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of F... |
ORPHA:84064 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Abnormal renal medulla morphology, Nephronophthisis, Cere... |
OMIM:609583 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... |
OMIM:606232 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Leukoencephalopathy, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Cerebell... |
OMIM:619260 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Multicystic kidney dy... |
OMIM:267010 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Nephronophthisis, Frontal polymicrogyria, Cerebellar verm... |
OMIM:608629 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Mandibular prognathia, Spina bifida |
OMIM:193500 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, Renal dysplasia, En... |
OMIM:613091 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Dysgenesis of the hippocampus, Micrognathia, Agenesis of corpus callosum, Noncommunicating hydroc... |
OMIM:619320 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
Spinocerebellar Ataxia 1 |
|
Dorsal column degeneration, Urinary bladder sphincter dysfunction, Spinocerebellar atrophy, Dilat... |
OMIM:164400 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
Neu-Laxova Syndrome 2 |
|
Micrognathia, Microcephaly, Cerebellar hypoplasia, Lissencephaly, Ventriculomegaly, Spina bifida,... |
OMIM:616038 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... |
OMIM:301056 |
Fraser Syndrome 1 |
|
Myelomeningocele, Dental malocclusion, Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Hypos... |
OMIM:219000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... |
OMIM:615249 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Biparietal narrowing, Abnormal liver lobulation, Micrognathia, Microcephaly,... |
ORPHA:99776 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... |
ORPHA:2869 |
Orofaciodigital Syndrome Vi |
|
Short stature, Hypothalamic hamartoma, Micrognathia, Renal agenesis, Renal dysplasia, Cerebellar ... |
OMIM:277170 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology |
OMIM:613390 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Renal tubular dysf... |
OMIM:614886 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... |
OMIM:612946 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Hepatomegaly, Aminoaciduria, Retrognathia, Micrognathia, Microcephaly... |
OMIM:604273 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... |
ORPHA:2396 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Aortic Arch Interruption |
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Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Adams-Oliver Syndrome 1 |
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Pachygyria, Microcephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus callosum, ... |
OMIM:100300 |
Machado-Joseph Disease |
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Urinary bladder sphincter dysfunction, Cerebellar atrophy, Dilated fourth ventricle, Spinocerebel... |
OMIM:109150 |
Proboscis Lateralis |
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Macrocephaly, Abnormal facial skeleton morphology, Holoprosencephaly, Unilateral renal agenesis, ... |
ORPHA:141099 |