Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele |
OMIM:213010 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Cocaine Embryofetopathy |
|
Encephalocele |
ORPHA:1911 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele |
OMIM:615397 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
Isolated Dandy-Walker Malformation |
|
Encephalocele |
ORPHA:217 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele |
OMIM:200130 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Parietal Foramina 1 |
|
Encephalocele |
OMIM:168500 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction |
ORPHA:2717 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:618939 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Orbital cyst, Eyelid coloboma |
OMIM:164180 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Acrofacial Dysostosis, Cincinnati Type |
|
Lower eyelid coloboma, Ablepharon, Downslanted palpebral fissures, Upper eyelid coloboma |
OMIM:616462 |
Joubert Syndrome 16 |
|
Encephalocele |
OMIM:614465 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Ectropion |
ORPHA:1231 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele |
OMIM:218670 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma, Spina bifida |
ORPHA:1104 |
Leber Congenital Amaurosis |
|
Encephalocele |
ORPHA:65 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... |
ORPHA:1791 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos |
OMIM:248450 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele |
OMIM:613885 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Spina bifida |
OMIM:616038 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Cryptophthalmos |
OMIM:617667 |
Joubert Syndrome 9 |
|
Encephalocele |
OMIM:612285 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... |
OMIM:611134 |
Pseudoprogeria Syndrome |
|
Cranium bifidum occultum |
ORPHA:2985 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... |
OMIM:263650 |
Lissencephaly 8 |
|
Occipital encephalocele |
OMIM:617255 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Bartsocas-Papas Syndrome |
|
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl... |
ORPHA:1234 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:310300 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft |
OMIM:603671 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele |
OMIM:136760 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Confusion, Depression, Abnormal left ventricular f... |
ORPHA:36913 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures |
ORPHA:246 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Joubert Syndrome 7 |
|
Encephalocele |
OMIM:611560 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Acrofrontofacionasal Dysostosis |
|
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1784 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Joubert Syndrome 18 |
|
Occipital encephalocele |
OMIM:614815 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:607361 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele |
ORPHA:521308 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Burn-Mckeown Syndrome |
|
Blepharophimosis, Lower eyelid coloboma, Short palpebral fissure |
OMIM:608572 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Pai Syndrome |
|
Encephalocele |
ORPHA:1993 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra... |
OMIM:229400 |
Ablepharon Macrostomia Syndrome |
|
Ablepharon, Absent eyebrow, Absent eyelashes, Umbilical hernia, Cryptophthalmos |
ORPHA:920 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft |
OMIM:217100 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Hydranencephaly, Spina bifida, Absent eyelashes, Stillbirth, Short umbilical cord, Sm... |
OMIM:256520 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology |
OMIM:617757 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Myelomeningocele, Hydrocephalus, Upper eyelid co... |
OMIM:219000 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Limb... |
ORPHA:3339 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Frontorhiny |
|
Encephalocele, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Facial cleft |
ORPHA:1786 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Oculocerebrocutaneous Syndrome |
|
Ptosis, Hydrocephalus, Eyelid coloboma |
ORPHA:1647 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Cryptophthalmos |
OMIM:200110 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele |
ORPHA:228390 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration |
OMIM:615351 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Momo Syndrome |
|
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures |
OMIM:157980 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele |
OMIM:216360 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cognitive impairment, Cardiomyopathy |
ORPHA:1177 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:370959 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:26793 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 8 |
|
Occipital encephalocele |
OMIM:612291 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... |
OMIM:601005 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft |
OMIM:613451 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... |
ORPHA:263297 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Upper eyelid coloboma, Abnormal eyelid morphology |
ORPHA:2095 |
Diamond-Blackfan Anemia 11 |
|
Eyelid coloboma |
OMIM:614900 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Splenomegaly, Dilated cardiomyopathy, Atrioventricular block,... |
ORPHA:398124 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Myelomeningocele, Lacrimal duct aplasia, Malformed lacrimal duct... |
ORPHA:2052 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele |
OMIM:614195 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Nasolacrimal duct obstructio... |
OMIM:147791 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Confusion, Increased cir... |
ORPHA:71212 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Momo Syndrome |
|
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures |
ORPHA:2563 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Hydrocephalus, Eyelid coloboma |
OMIM:613001 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele |
OMIM:224410 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... |
OMIM:608091 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
Fraser Syndrome 2 |
|
Cryptophthalmos |
OMIM:617666 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Cranium bifidum occultum, Ptosis |
ORPHA:306542 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus |
ORPHA:1865 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Mosaic Trisomy 9 |
|
Facial cleft, Spina bifida |
ORPHA:99776 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... |
OMIM:300257 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly |
OMIM:619148 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... |
ORPHA:356961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia |
ORPHA:251274 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Jacobsen Syndrome |
|
Death in infancy, Epicanthus, Ectropion, Spina bifida, Eyelid coloboma, Downslanted palpebral fis... |
ORPHA:2308 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Downslanted palpebral fissures, Ectropion |
OMIM:263750 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft |
OMIM:617542 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... |
OMIM:213300 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly |
ORPHA:887 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Facial cleft |
ORPHA:268249 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619185 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus |
OMIM:613150 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Facial cleft |
ORPHA:861 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus |
OMIM:614643 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissure, Narrow pal... |
OMIM:615873 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... |
ORPHA:31826 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... |
OMIM:170390 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulating acylcarn... |
OMIM:616878 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Duplication Of The Pituitary Gland |
|
Encephalocele |
ORPHA:314621 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... |
OMIM:616546 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi... |
ORPHA:466650 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:94089 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Umbilical hernia, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Treacher Collins Syndrome 2 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:613717 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly |
ORPHA:2162 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Branchioskeletogenital Syndrome |
|
Telecanthus, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, Umbilical herni... |
ORPHA:1299 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Sweeney-Cox Syndrome |
|
Upper eyelid coloboma |
OMIM:617746 |
3Mc Syndrome 3 |
|
Facial cleft |
OMIM:248340 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation, Cognitive impairment |
ORPHA:94125 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Meningoencephalocele, Occipital encephalocele, Hydrocephalus |
OMIM:236670 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele |
OMIM:615636 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele |
OMIM:616300 |
Scalp-Ear-Nipple Syndrome |
|
Eyelid coloboma, Palpebral edema, Telecanthus |
ORPHA:2036 |
Atelosteogenesis, Type I |
|
Encephalocele |
OMIM:108720 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Rett Syndrome |
|
Abnormal T-wave, Motor deterioration, Prolonged QTc interval |
OMIM:312750 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus |
OMIM:605627 |
Isolated Arrhinia |
|
Eyelid coloboma |
ORPHA:1134 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, L... |
OMIM:613179 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Epicanthus, Eyelid coloboma |
OMIM:600268 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Aqueductal stenosis, Hydrocephalus, Lower eyelid coloboma, Absent lower e... |
OMIM:154400 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Blepha... |
OMIM:181270 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Eyelid coloboma, Telecanthus |
ORPHA:140952 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Knobloch Syndrome 2 |
|
Encephalocele |
OMIM:618458 |
Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly |
ORPHA:564 |
Alg3-Cdg |
|
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation |
ORPHA:79321 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... |
ORPHA:85443 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Attention deficit hyperactivity disorder, Elevated circulating creatine co... |
OMIM:300352 |
Holoprosencephaly 1 |
|
Ethmocephaly, Facial cleft, Alobar holoprosencephaly |
OMIM:236100 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Confusion, Depression, Irritability, Hyperphosphatemia, Hypoca... |
ORPHA:79444 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Faundes-Banka Syndrome |
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Epicanthus, Hypoplasia of the lower eyelids, Long palpebral fissure, Downslanted palpebral fissur... |
OMIM:619376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:615287 |
Charge Syndrome |
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Epicanthus, Highly arched eyebrow, Aqueductal stenosis, Eyelid coloboma, Holoprosencephaly, Ptosis |
ORPHA:138 |
Dilated Cardiomyopathy With Ataxia |
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Prolonged QT interval, Elevated circulating glutaric acid concentration, Dilated cardiomyopathy |
ORPHA:66634 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... |
ORPHA:268 |
47,Xyy Syndrome |
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Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
Gitelman Syndrome |
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Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p... |
ORPHA:358 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Hydrocephalus, Anencephaly, Large placenta |
OMIM:249000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Prolonged QT interval, Confusion, Depression, Hypertension, Irritability, Hyperphosph... |
ORPHA:79443 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Aicardi-Goutières Syndrome |
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Eyelid coloboma, Ptosis |
ORPHA:51 |
Orofaciodigital Syndrome Xvi |
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Molar tooth sign on MRI |
OMIM:617563 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Hypoplasia of eyelid |
OMIM:619321 |
Poland Syndrome |
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Encephalocele, Spina bifida occulta |
ORPHA:2911 |
Orofaciodigital Syndrome Vi |
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Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia |
OMIM:277170 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Prolonged QT interval, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder |
OMIM:620029 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Dextrocardia |
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Abnormality of the spleen, Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Adams-Oliver Syndrome 1 |
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Encephalocele |
OMIM:100300 |
Cerebellofaciodental Syndrome |
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Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia |
OMIM:616202 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Congenital Sialidosis Type 2 |
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Abnormal EKG, Telangiectasia, Hepatosplenomegaly |
ORPHA:93400 |
Roberts-Sc Phocomelia Syndrome |
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Hydrocephalus, Frontal encephalocele, Eyelid coloboma, Stillbirth, Shallow orbits, Downslanted pa... |
OMIM:268300 |
Orofaciodigital Syndrome Type 6 |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:2754 |
Friedreich Ataxia |
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Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Scorpion Envenomation |
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Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Patent urachus |
OMIM:192350 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Holoprosencephaly |
OMIM:615948 |
Cardiac Diverticulum |
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Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
17Q24.2 Microdeletion Syndrome |
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Prolonged QT interval, Emotional lability, Pulmonic stenosis |
ORPHA:529962 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Multiple Endocrine Neoplasia Type 1 |
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Short attention span, Hypercalcemia, Confusion, Hematemesis, Shortened QT interval, Thymoma, Depr... |
ORPHA:652 |
Gangliocytoma |
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Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Blepharophimosis, Hydrocephalus, Upper eyelid coloboma, Branchial anomal... |
OMIM:164210 |
Simpson-Golabi-Behmel Syndrome |
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Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia |
ORPHA:373 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Alternating Hemiplegia Of Childhood |
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Progressive neurologic deterioration, Cardiac conduction abnormality, Emotional lability, Cardiom... |
ORPHA:2131 |
Parathyroid Carcinoma |
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Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
African Trypanosomiasis |
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Abnormal EKG, Pericarditis, Splenomegaly, Myocarditis, Congestive heart failure, Hepatosplenomega... |
ORPHA:3385 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Facial cleft |
ORPHA:93271 |
Wilson Disease |
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Face of the giant panda sign |
OMIM:277900 |
Dpagt1-Cdg |
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Intracranial hemorrhage, Emotional blunting, Prolonged QT interval |
ORPHA:86309 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology |
ORPHA:293987 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia |
OMIM:300755 |
Orofaciodigital Syndrome Type 14 |
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Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation |
ORPHA:434179 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Myocardial infarction, Depression, Hypertension, Attention deficit hyperac... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Myocardial infarction, Depression, Hypertension, Attention deficit hyperac... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Myocardial infarction, Depression, Hypertension, Attention deficit hyperac... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Myocardial infarction, Depression, Hypertension, Attention deficit hyperac... |
ORPHA:99226 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Woodhouse-Sakati Syndrome |
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Mental deterioration, Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
Friedreich Ataxia 2 |
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Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93924 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal brainstem morphology |
ORPHA:464311 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
Schinzel-Giedion Syndrome |
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Chiari type I malformation, Umbilical hernia, Neural tube defect |
ORPHA:798 |