Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... |
OMIM:231060 |
Lissencephaly 5 |
|
Leukoencephalopathy, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Porencephalic... |
OMIM:615191 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Renal cyst, Bile... |
OMIM:611134 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Laterality Defects, Autosomal Dominant |
|
Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Abnormal cerebral white matter... |
ORPHA:352682 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... |
OMIM:604213 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Aplasia/Hypo... |
ORPHA:1908 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Partial ab... |
OMIM:220200 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... |
OMIM:617967 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Retrognathia, Molar tooth sign on MRI, Arrhinencephaly, Renal cyst,... |
OMIM:614815 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Hydrocephalus, Macrocepha... |
ORPHA:1931 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:2570 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ... |
OMIM:614424 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agyri... |
OMIM:617255 |
Pallister-Hall-Like Syndrome |
|
Short stature, Death in infancy, Renal dysplasia, Micrognathia, Hydrocephalus, Macrocephaly, Chia... |
OMIM:241800 |
Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele, Abnormal ethmoid bone morphology, Partial agenesis of the corpus c... |
ORPHA:101030 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Absent hippocampal commissure, Ag... |
OMIM:617542 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissencephaly, Occipital enceph... |
ORPHA:324416 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anencephaly, Malformati... |
OMIM:614175 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... |
OMIM:618845 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia, Occipi... |
OMIM:617562 |
Isolated Dandy-Walker Malformation |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Dandy-Walker malformation |
ORPHA:217 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Renal cortical cysts, Ventriculomegaly, Lateral ventricle d... |
ORPHA:397715 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum |
ORPHA:945 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Occipital encephalocele, Agenesis of cerebellar vermis, Peripo... |
OMIM:213010 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Perisylvian polymicrogyria, Abnormal septum pellucidum morphology, Hypop... |
ORPHA:280195 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
Neurocutaneous Melanocytosis |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Death i... |
ORPHA:2481 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Intrauterine growth... |
OMIM:603194 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Triploidy |
|
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the gallbladder, Micrognat... |
ORPHA:3376 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Neurogenic bladder, Agenesi... |
ORPHA:1136 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... |
OMIM:617478 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Microcephaly, Intrauterine growth retardation |
OMIM:306990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly... |
OMIM:615771 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Renal... |
OMIM:173900 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta |
OMIM:182940 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega... |
ORPHA:171680 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis... |
OMIM:207950 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Short stature, Renal hypoplasia/aplasia... |
ORPHA:1590 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... |
OMIM:611560 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Primary microcephaly, Micrognathia, Lissencephaly, Optic nerve hypo... |
ORPHA:300570 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Death in infancy, Cer... |
OMIM:614643 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Biparietal narrowing,... |
ORPHA:2031 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Posterior fossa cyst at the fourth ventric... |
OMIM:220220 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Multiple small medullary renal cysts, Encephalocele, Cirrhosis, Molar tooth sig... |
OMIM:216360 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Orbita... |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Hypoplasia of the brainstem, Lateral ventricle di... |
OMIM:617751 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hy... |
OMIM:613150 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Retrocerebellar cyst, Encephalocele, Ventriculomegaly, Choroid plexus cyst, Hypoplas... |
ORPHA:1827 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Stage 5 chronic kidne... |
OMIM:612285 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Renal dysplasia, Microretr... |
OMIM:236500 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Enlarged fossa interpeduncularis, Elongated superior ... |
OMIM:608091 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Intrauterine growth retardation, Lobar ... |
ORPHA:2117 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Biparietal narrowing, Neph... |
ORPHA:220497 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Microcephaly |
OMIM:200130 |
Right Atrial Isomerism |
|
Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Common atrium, Atria... |
OMIM:208530 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, Occipital encephalocel... |
OMIM:613885 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Urethral stenosis, Te... |
ORPHA:1727 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Pseudoprogeria Syndrome |
|
Cranium bifidum occultum, Short stature, Spinal arachnoid cyst, Growth delay, Microcephaly |
ORPHA:2985 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Ventriculomegaly, Short stature, Abnormality of the kidney, Hydrocephalus, Macroce... |
ORPHA:93274 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... |
ORPHA:3384 |
Isolated Hemihyperplasia |
|
Nephroblastoma, Myelomeningocele |
ORPHA:2128 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Leber Congenital Amaurosis |
|
Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele |
ORPHA:65 |
Hemihyperplasia, Isolated |
|
Nephroblastoma, Myelomeningocele |
OMIM:235000 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Decreased head circumference, Intrauterine growth retardation, Short stature |
OMIM:619033 |
Lathosterolosis |
|
Meningocele, Hepatic failure, Cerebellar cortical atrophy, Chiari malformation, Micrognathia, Bip... |
ORPHA:46059 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Hypoplasia o... |
OMIM:136760 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Micrognathia, Macrocephaly, Pericallosal lipoma, Microcephaly |
ORPHA:398156 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Molar tooth sign on MRI, Hydrocephalus,... |
ORPHA:2318 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Short stature, Hypoplastic anterio... |
OMIM:618325 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Short stature, Death in infancy, Spi... |
ORPHA:1393 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Microcephaly, Short stature, Hydronephrosis |
OMIM:620141 |
Arima Syndrome |
|
Renal tubular atrophy, Hepatic steatosis, Brainstem dysplasia, Hepatomegaly, Nephronophthisis, He... |
OMIM:243910 |
Cocaine Embryofetopathy |
|
Abnormality of the urinary system, Encephalocele |
ORPHA:1911 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal... |
OMIM:607361 |
Distal Monosomy 7Q36 |
|
Short stature, Micrognathia, Hypoplasia of penis, Holoprosencephaly, Microcephaly |
ORPHA:1636 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Microcephaly |
ORPHA:63862 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis |
ORPHA:3033 |
Joubert Syndrome 1 |
|
Hepatic fibrosis, Hypoplasia of the brainstem, Enlarged fossa interpeduncularis, Elongated superi... |
OMIM:213300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Kinked brainstem, Cerebellar dysplasia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar... |
OMIM:236670 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Short stature, Macrocephaly, Spina bifida occulta, Abnormality of the ureter, Hyposp... |
ORPHA:2311 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Micropenis, Alobar holoprosencephaly, Ventriculomegaly |
OMIM:615433 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... |
ORPHA:2182 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Molar tooth sign on MRI, Micrognathia, Anencephaly, Hydrocephalus, Agenesis of ... |
OMIM:614120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus... |
OMIM:253800 |
Lateral Meningocele Syndrome |
|
Meningocele, Short stature, Neurogenic bladder, Micrognathia, Hydrocephalus, Chiari type I malfor... |
OMIM:130720 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Intrauterine growth retardation |
ORPHA:1914 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Encephalocele, Intrauterine growth retardation, Agenesis of corpus... |
ORPHA:228390 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Cerebellar vermis hy... |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Hypoplasia of the brainstem, Vent... |
OMIM:615287 |
Posterior Meningocele |
|
Meningocele, Chiari malformation, Increased head circumference, Neural tube defect, Occipital men... |
ORPHA:268810 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Azoospermia, Microcephaly, Short stature |
ORPHA:1445 |
Parietal Foramina 1 |
|
Macrocephaly, Encephalocele |
OMIM:168500 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Short stature, Renal dysplasia, Porencephalic cyst, Arrhinencephaly, Ren... |
OMIM:277170 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Hepatomegaly |
ORPHA:1759 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Renal agenesis, Holoprosencephaly, Microceph... |
OMIM:264480 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney... |
ORPHA:1454 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Ventriculomegaly, Lipomyelomeningocele, Megalencephaly, Chiari type I malform... |
OMIM:601707 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Short stature, Microphallus, Hypospadias, Microcephaly, Postnatal growth retard... |
ORPHA:94065 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Molar tooth sign on MRI, Hydrocephalus, Elevated hepatic transaminase, Portal f... |
OMIM:619111 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy |
OMIM:602475 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum |
ORPHA:521308 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Death in infancy, Simplified gyral pattern, Cerebellar hypoplasia, H... |
OMIM:619302 |
Orofaciodigital Syndrome I |
|
Ovarian cyst, Arachnoid cyst, Hepatic fibrosis, Abnormal cortical gyration, Polycystic kidney dys... |
OMIM:311200 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Periventricular leukomalacia, Hydrocephalus, Hypoplasia of the maxilla, Microcephaly, Cerebellar ... |
OMIM:618302 |
Arachnoid Cyst |
|
Urinary incontinence, Encephalocele, Chiari malformation, Abnormal cerebellum morphology, Urinary... |
ORPHA:2356 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Microphallus |
OMIM:615542 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Severe short stature, Disproportionate short-limb short stature, Microcephaly, Mala... |
OMIM:224410 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Macrocephaly |
OMIM:300706 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis mo... |
ORPHA:1756 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Molar tooth sign on MRI, Hypoplast... |
OMIM:616300 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus... |
OMIM:618276 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly,... |
ORPHA:990 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Ventriculomegaly, Lobar holoprosencephaly, Lissencephaly, Optic ... |
ORPHA:468631 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hypoplasia of the premaxilla, Cerebella... |
ORPHA:2166 |
Lateral Meningocele Syndrome |
|
Meningocele, Chiari malformation, Micrognathia, Craniofacial hyperostosis, Malar flattening, Umbi... |
ORPHA:2789 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Delayed eruption of teeth, Micrognathia, Anencephaly, Penoscrotal t... |
OMIM:619148 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Short stature, Renal dysplasia, Renal hypoplasia/aplasia, Delayed eruption... |
ORPHA:96264 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... |
ORPHA:3426 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Myelomeningocele, Congenital megaureter, Spina bifida, Micrognathia, Hydroceph... |
ORPHA:2437 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending... |
OMIM:270100 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... |
OMIM:263200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simpl... |
OMIM:613153 |
Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Hypoplastic hippocam... |
OMIM:600348 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
Enlarged Parietal Foramina |
|
Encephalomalacia, Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hydrocephalus, Biparietal narrowing, Ce... |
ORPHA:475 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Neurogenic bladder, Thin corpus callosum, Optic nerve hypop... |
ORPHA:572013 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Absent septum pellucidum, Anterior encephalocele |
OMIM:601357 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Decreased head circumference, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild m... |
ORPHA:500166 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... |
OMIM:610205 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Renal dysplasia, Interrupted aortic arch, Abnorm... |
ORPHA:391641 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Mandibular aplasia, Spina bifida,... |
ORPHA:63259 |
Holoprosencephaly 14 |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Sub... |
OMIM:619895 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Mandibular prognathia, Spina bifida |
ORPHA:894 |
Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
Duplication Of The Pituitary Gland |
|
Retrognathia, Encephalocele, Short stature, Supernumerary tooth, Abnormal hypothalamus morphology... |
ORPHA:314621 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Hepatomegaly, Pachygyria, Decreased liver function, Neonatal death, Colpocephaly |
OMIM:614870 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Miscarriage, Severe short stature, Microcephaly |
ORPHA:1865 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Monosomy 18P |
|
Short stature, Micrognathia, Holoprosencephaly, Microcephaly, Carious teeth |
ORPHA:1598 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... |
ORPHA:1166 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Leukoencephalopathy, Global brain atrophy, Cerebral edema, Ventriculomegaly, Cerebellar edema, Ce... |
OMIM:617186 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Aplasia of the bladder, Anencephaly, Hydrocephalus, Renal c... |
OMIM:612284 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Abdominal situs inversus, Right atria... |
OMIM:306955 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hypoplasia of the premaxilla, Hydrocephalus, Semilobar holoprosencep... |
OMIM:610828 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Short stature, Neurogenic bladder, Hydrocephalus, Spina bifida occulta, Chiari ... |
OMIM:613686 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Occipital encephalocele, Anencephaly, Bile duct proliferation |
OMIM:611561 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Primary microcephaly, Abnormal cerebellar vermis morphology, Postnatal ... |
ORPHA:357058 |
Microhydranencephaly |
|
Hypoplasia of the brainstem, Ventriculomegaly, Short stature, Cerebellar hypoplasia, Hydranenceph... |
OMIM:605013 |
Griscelli Syndrome |
|
Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Hepatomegaly |
ORPHA:381 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Chiari malformation, Ventriculomegaly, Micrognathia, Malformation of t... |
OMIM:249000 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ventriculomegaly, Natal tooth, Microp... |
OMIM:612651 |
Masa Syndrome |
|
Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Microcephaly, Agenesis of corpus ca... |
OMIM:303350 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Ventriculomegaly, Lat... |
OMIM:613443 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... |
OMIM:265380 |
Exostoses, Multiple, Type Ii |
|
Short stature, Cervical myelopathy |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short stature, Cervical myelopathy |
OMIM:133700 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
Pagod Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Encephalocele, Short stature, Death in infancy, Spina ... |
ORPHA:991 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia,... |
ORPHA:314588 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation, Cerebellar hypopla... |
ORPHA:3078 |
Trisomy 18 |
|
Aplasia/Hypoplasia of the corpus callosum, Chiari malformation, Short stature, Spina bifida, Anen... |
ORPHA:3380 |
Lambotte Syndrome |
|
Retrognathia, Semilobar holoprosencephaly, Microcephaly, Intrauterine growth retardation |
OMIM:245552 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Optic... |
OMIM:605627 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... |
ORPHA:77298 |
Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Natal tooth, Anencephaly, Hydrocephalus, Cystic renal dysplasia, Macrocephal... |
OMIM:269860 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventriculomegaly, Short stature, Cerebellar hypoplasia, Holoprosencephaly, Microcephaly |
OMIM:612530 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Retrocerebellar cyst, Dilated fourth ventricle, Short stature, Inferior cerebellar vermis hypopla... |
OMIM:614831 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Short stature, Hydrocephalus, Cere... |
ORPHA:1532 |
Frontorhiny |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cranium bifidum occultum, Hypoplastic f... |
ORPHA:391474 |
Knobloch Syndrome 1 |
|
Renal duplication, Bifid ureter, Ventriculomegaly, Occipital meningocele, Polymicrogyria, Spina b... |
OMIM:267750 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Short stature, Cerebellar hypoplasia |
OMIM:213200 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hypoplastic frontal sinuses, Cerebellar hypoplasia, Micrognathia... |
ORPHA:90652 |
Pai Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele |
ORPHA:1993 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Cerebellar dysplasia,... |
OMIM:615960 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the gallbladder, Anencephaly, Renal agenesis, Hypopl... |
ORPHA:887 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Severe short stature, Neonatal short-limb short statu... |
OMIM:224400 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Encephalocele, Short stature, Hypoplasia of olfactory tract |
ORPHA:1791 |
Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Aplasia/Hypoplas... |
ORPHA:564 |
Joubert Syndrome 21 |
|
Hypoplasia of the brainstem, Elongated superior cerebellar peduncle, Renal cyst, Hypoplasia of th... |
OMIM:615636 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... |
ORPHA:99050 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Natal tooth, Cerebellar hypoplasia, Simplified gyral pattern, Micrognath... |
OMIM:615948 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Holoprosencephaly, Mandibular aplasia, Agenesis of corpus callosum |
OMIM:202650 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Tubulonodular pericallosal lipoma, Encephalocele, Ventriculomegaly, Choroid... |
OMIM:603671 |
Adams-Oliver Syndrome |
|
Cirrhosis, Encephalocele, Porencephalic cyst, Periventricular leukomalacia, Hydrocephalus, Portal... |
ORPHA:974 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology |
OMIM:608776 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Semilobar holoprosencephaly, Death i... |
OMIM:618651 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Micrognathia, Agenesis of c... |
OMIM:225790 |
Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, In... |
OMIM:613451 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... |
ORPHA:229 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Encephalocele, Renal dysplasia, Anencephaly, Hydrocephalus, Renal agenesis, H... |
ORPHA:1335 |
Microform Holoprosencephaly |
|
Short stature, Renal agenesis, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Intrauterine... |
ORPHA:280200 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis ... |
OMIM:619562 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... |
OMIM:208540 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Short stature, Transient nephrotic syndrome, Elevated hepatic trans... |
ORPHA:356961 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventriculomegaly, Death in infancy, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney... |
OMIM:613730 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Lathosterolosis |
|
Myelomeningocele, Chiari malformation, Bilobate gallbladder, Micrognathia, Elevated hepatic trans... |
OMIM:607330 |
Zaki Syndrome |
|
Dilated fourth ventricle, Short stature, Micrognathia, Renal agenesis, Cerebellar vermis hypoplas... |
OMIM:619648 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Global brain atrophy, Micrognathia, Hepatic steatosis, Holoprose... |
OMIM:270400 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Renal insufficiency, Microcephaly |
ORPHA:2165 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Short stature, Diffuse cerebral atrophy, Cer... |
ORPHA:1170 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Arrhinencephaly, Stillbirth |
OMIM:300073 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Nephroblastoma, Multicystic kidney dysplasia, Aplasia/Hypop... |
ORPHA:1052 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Short stature, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus ... |
ORPHA:166024 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Death in infancy, Spina bifida, Micrognathia, Lissencephaly, Organic aciduria, ... |
ORPHA:99742 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Isomerism, Enlarged kidney, Dextrocardia, Persis... |
OMIM:314390 |
16P13.11 Microdeletion Syndrome |
|
Ventriculomegaly, Short stature, Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
ORPHA:261236 |
Renpenning Syndrome |
|
Anal atresia, Hypospadias, Cleft palate, Heterotaxy, High, narrow palate |
ORPHA:3242 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Semilobar holopr... |
OMIM:618500 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Leukoencephalopathy, Short stature, Growth delay, Cerebral atrophy, Hypoplasia of the corpus call... |
OMIM:619260 |
Split Cord Malformation |
|
Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Chiari malformation, Detr... |
ORPHA:573278 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Aplasi... |
ORPHA:2162 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hepatic fibrosis, Hypoplasia of the brainstem, Enlarged fossa interpedu... |
OMIM:610688 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis |
ORPHA:251076 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Molar tooth sign on MRI, Stage 5 chro... |
OMIM:610188 |
Developmental And Epileptic Encephalopathy 99 |
|
Perisylvian polymicrogyria, Ventriculomegaly, Frontotemporal cerebral atrophy, Thick corpus callo... |
OMIM:619606 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of corpus callo... |
OMIM:617127 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Holoprosencephaly, Abnormal... |
ORPHA:563612 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Urinary retention, Neurogenic bladder, Hydrocephalus, Myeloschisis... |
OMIM:600145 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy |
OMIM:619054 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ... |
OMIM:304100 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... |
ORPHA:1988 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... |
ORPHA:2255 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Cerebellar hypopla... |
OMIM:257300 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chiari malformation, Colpocephaly, Micrognathia, Macrocephaly, Polymicr... |
OMIM:618820 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:618316 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormal cortical gyration, Macrogyria, Polymicrogyria, Epispadias, L... |
ORPHA:2211 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Pallister-Hall Syndrome |
|
Hypothalamic hamartoma, Short stature, Renal dysplasia, Natal tooth, Hydroureter, Renal cyst, Ect... |
OMIM:146510 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal brain... |
ORPHA:300573 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Vesicoureteral reflux, Short stature, Spina bifida, Micrognathia, Arrhinencephaly, H... |
ORPHA:567 |
Meckel Syndrome 14 |
|
Retrognathia, Hepatic fibrosis, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, Hol... |
OMIM:619879 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal... |
OMIM:614954 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal cerebellum morphology, Ventriculomegaly, Abnormal brainstem morph... |
ORPHA:255182 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Small cerebral cortex, Short stature, Cerebellar hypoplasia, Simplified gyral ... |
OMIM:617914 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Microcephaly, Short stature |
ORPHA:2163 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... |
OMIM:113650 |
Trisomy 17P |
|
Patent ductus arteriosus, Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left hear... |
ORPHA:261290 |
Ciliary Dyskinesia, Primary, 14 |
|
Heterotaxy, Situs inversus totalis |
OMIM:613807 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
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 |
Phaver Syndrome |
|
Myelomeningocele, Intrauterine growth retardation |
ORPHA:2876 |
Phenobarbital Embryopathy |
|
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Ventriculomegaly, Abnormal brainstem morphology, Micrognathia, Hydrocephalus, Abnor... |
ORPHA:163961 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Reduced amygdala volume, Lateral ventricle dilatation, Thin ... |
OMIM:619517 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Ventriculomegaly, Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atro... |
ORPHA:85179 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... |
ORPHA:480536 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... |
OMIM:600638 |
Trisomy 8Q |
|
Micrognathia, Myelomeningocele, Displacement of the urethral meatus, Hypoplasia of penis |
ORPHA:1752 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Proximal tubulopathy, Hepatic fibrosis, Cerebellar hypoplasia, Nephroti... |
OMIM:212065 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o... |
OMIM:618736 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... |
OMIM:611773 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Growth delay, Short stature |
ORPHA:250999 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Short stature, Cerebellar hypoplasia, Simp... |
OMIM:300749 |
Smith-Lemli-Opitz Syndrome |
|
Ventriculomegaly, Micrognathia, Biparietal narrowing, Holoprosencephaly, Abnormal dental enamel m... |
ORPHA:818 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level |
OMIM:613630 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI, Prolonged neonatal jaundice, Hepatomegaly |
OMIM:612291 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Abnormal cortical gyration, Short stature, Hypoplasia o... |
OMIM:610829 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Microcephaly, Short stature |
OMIM:147250 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Short stature, Hydrocephalus, Hypospadias, Horseshoe kidney, Chiari type I malf... |
OMIM:218350 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Hypoplasia of the maxilla, Malar fl... |
OMIM:109120 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Hepatic failure, Stage 5 chronic kidney disease, Polycystic kidney ... |
ORPHA:157 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defec... |
OMIM:300712 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Dilated fourth ventricle, Abnormal periventricular white matter morphology, ... |
ORPHA:572798 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Cerebellar vermis hypoplasia |
ORPHA:251347 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the ventral pons, Hypoplasia of the brainstem, Ventriculomegaly, Abnormal cortical ... |
ORPHA:2524 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Semilobar holoprosencephaly, Holoprosencephaly, Hypoplasia of the zygomatic b... |
ORPHA:556955 |
Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Ventriculomegaly, Short stature, Lobar holoprosencephaly, Microcephaly, Enamel agenesis |
OMIM:614701 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Renal hypoplasia/aplasia, Hyp... |
ORPHA:93929 |
Atelosteogenesis, Type I |
|
Encephalocele, Rhizomelia, Micrognathia, Disproportionate short-limb short stature, Stillbirth, M... |
OMIM:108720 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:608836 |
Holoprosencephaly 3 |
|
Ventriculomegaly, Holoprosencephaly, Microcephaly, Malar flattening, Hydronephrosis |
OMIM:142945 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ce... |
OMIM:615181 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Abnormal cardiac septum morphology, Interrupted ... |
ORPHA:250989 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
Meckel Syndrome 12 |
|
Cerebellar hypoplasia, Bilateral renal agenesis, Cerebral hypoplasia, Arrhinencephaly, Micrognath... |
OMIM:616258 |
Meacham Syndrome |
|
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... |
OMIM:608978 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Ventriculomegaly, Short stature, Micrognathia, Macrocephaly, Hypoplastic a... |
OMIM:616975 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:614195 |
Phocomelia, Schinzel Type |
|
Meningocele, Micrognathia, Hypoplasia of penis, Disproportionate short stature, Intrauterine grow... |
ORPHA:2879 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Optic nerve hypoplasia |
OMIM:607597 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... |
OMIM:618496 |
Dural Sinus Malformation |
|
Hypoplasia of the frontal lobes, Cerebral edema, Abnormal cerebellum morphology, Hydrocephalus, M... |
ORPHA:97339 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Ventriculomegaly, Cerebellar hypoplasia, Hyd... |
ORPHA:261344 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Crossed fused renal ectopia, Ventricular septal def... |
ORPHA:3097 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... |
OMIM:617056 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Short uvula, Renal hypoplasia,... |
OMIM:614091 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... |
ORPHA:2326 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Abnormality of the liver, Short stature, Renal hypoplasia/aplasia, Mic... |
ORPHA:1834 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... |
ORPHA:163979 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, 3-Methylglutaconic aciduria, Interrupted aortic a... |
ORPHA:17 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... |
OMIM:615415 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, St... |
OMIM:608629 |
Triopia |
|
Macrocephaly, Encephalocele |
ORPHA:3374 |
Oeis Complex |
|
Myelomeningocele, Chiari malformation, Vesicovaginal fistula, Hydroureter, Hydrocephalus, Renal a... |
OMIM:258040 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Hydrocephalus, Hypoplasia of the maxil... |
ORPHA:93262 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Abnormal cerebral white matter morphology, Diffuse cerebellar atrophy, ... |
ORPHA:477774 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Growth delay, Primary microcephaly |
OMIM:618010 |
Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Abnormality of the liver, Spina bifida, Short umbilical cord, An... |
ORPHA:2369 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... |
ORPHA:1505 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Abnormal heart mo... |
ORPHA:26791 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... |
OMIM:212093 |
Joubert Syndrome 10 |
|
Macrocephaly, Molar tooth sign on MRI, Growth delay, Cerebellar vermis hypoplasia |
OMIM:300804 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebellar hypoplasia, Perive... |
OMIM:616900 |
Lumbar Syndrome |
|
Vesicoureteral reflux, Renal duplication, Myelomeningocele, Spina bifida, Renal agenesis, Hypospa... |
ORPHA:83628 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
Jacobsen Syndrome |
|
Micrognathia, Hydrocephalus, Macrocephaly, Holoprosencephaly, Hypospadias, Microcephaly, Intraute... |
OMIM:147791 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... |
ORPHA:276241 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Ce... |
OMIM:616602 |
Ring Chromosome 7 Syndrome |
|
Cerebral cortical atrophy, Mandibular prognathia, Abnormal cerebellum morphology, Ventriculomegal... |
ORPHA:1449 |
Birt-Hogg-Dube Syndrome |
|
Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Renal cyst, Colon cancer |
OMIM:135150 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... |
OMIM:614823 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination |
OMIM:252650 |
Chromosome 13Q14 Deletion Syndrome |
|
Micrognathia, Agenesis of corpus callosum, Holoprosencephaly, Growth delay, Hypoplasia of the cor... |
OMIM:613884 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Renal hypoplasia, Temporal cortical a... |
OMIM:615665 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Abnormal renal medulla morpholog... |
OMIM:609583 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:214110 |
Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Dental malocclusion, Myelomeningocele, Chiari malformation, Bifid ureter, Shor... |
OMIM:305600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... |
OMIM:619306 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Vesicoureteral reflux, Ventricular septal defect, Pulmonic stenosi... |
OMIM:301056 |
Marden-Walker Syndrome |
|
Renal dysplasia, Micrognathia, Abnormality of the urinary system, Multicystic kidney dysplasia, H... |
ORPHA:2461 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... |
ORPHA:276244 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Vesicoureteral reflux, Aqueductal stenosis, Short stature, ... |
ORPHA:138 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ... |
ORPHA:99125 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intest... |
OMIM:613091 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Renal malrotation, Hypop... |
OMIM:601186 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... |
ORPHA:84064 |
Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holo... |
OMIM:615465 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Hydrocephalus, Optic nerve hyp... |
ORPHA:85284 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Abnormality of the ki... |
OMIM:606232 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:1926 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Au-Kline Syndrome |
|
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Dental malocclusion, Ventriculomegaly, Dilat... |
OMIM:616580 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Renal tubular dysf... |
OMIM:614886 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... |
ORPHA:2237 |
Peutz-Jeghers Syndrome |
|
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... |
ORPHA:2869 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... |
OMIM:267010 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Micrognathia, Dysgenesis of the hippocampus, Noncommunicating hydrocephalus, Agenesis of corpus c... |
OMIM:619320 |
Waardenburg Syndrome |
|
Myelomeningocele |
ORPHA:3440 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Ventriculomegaly, Renal dysplasia, Spina bifida, Micrognathia, Biparie... |
ORPHA:99776 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Infancy onset short-trunk short stature, Hypoplasia of the brainstem, Ventri... |
ORPHA:444072 |
Developmental And Epileptic Encephalopathy 60 |
|
Global brain atrophy, Hippocampal malrotation |
OMIM:617929 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... |
OMIM:615249 |
Bilateral Generalized Polymicrogyria |
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Lateral ventricle dilatation, Short stature, Hypoplastic hippocampus, Microcephaly, Growth delay,... |
ORPHA:208447 |
Aortic Arch Interruption |
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Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
Bardet-Biedl Syndrome 4 |
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