Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... |
ORPHA:1008 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Failure to thrive, Hydrocephalus, Jaundice |
OMIM:129850 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Fatigable weakness of skeletal muscles, Dilated cardiomyopathy, Right bundle branch block, Left v... |
ORPHA:206559 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin, Abnormal te... |
ORPHA:100 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Prolonged QRS complex, Su... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydrocep... |
OMIM:269920 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... |
OMIM:610333 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Atrioventricular block, Glucose intolerance, Bradycard... |
OMIM:614407 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Hydrocephalus, Obesity, L... |
ORPHA:2183 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hydrocephalus, Small nail |
OMIM:619470 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Premature graying of hair, Hypop... |
ORPHA:33445 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy... |
ORPHA:858 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Myotonic Dystrophy 2 |
|
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... |
OMIM:602668 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Alopecia of scalp, Toenail dysplasia |
ORPHA:1532 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failur... |
OMIM:235200 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Fai... |
OMIM:618235 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Lat... |
OMIM:609637 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Congestive heart failure, Bradycardia, Failure to thrive, Hepatic ste... |
OMIM:619048 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... |
ORPHA:71526 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Obesity, Cholestasis, Gluc... |
OMIM:615630 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Abnormality of the liv... |
OMIM:610131 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Increased CSF lactate, Bradycardia, Dystonia |
OMIM:616277 |
Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction |
ORPHA:171445 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Congestive heart failure, Increased CSF lactate, ... |
ORPHA:70472 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... |
OMIM:115197 |
Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Cryptorchidism, Hydrocephalus, Obesity, Recurr... |
ORPHA:254516 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... |
ORPHA:90065 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Hydrocep... |
ORPHA:2701 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Obesity, Decreased body weight, Ventric... |
ORPHA:589821 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine concent... |
OMIM:616034 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep... |
ORPHA:163596 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Hepatomegaly, Right ventricula... |
ORPHA:1329 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, Anemia,... |
OMIM:184850 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Thrombocytopenia, Cryptorchidism, Hydrocephalus, In... |
OMIM:617053 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Synophrys, Small for gestational age, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, Dystonia |
OMIM:616299 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Myocardia... |
ORPHA:3452 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prem... |
OMIM:212138 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Tremor, Con... |
ORPHA:466677 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hirsutism, Hyperglycemia, Ventriculomegaly |
OMIM:175700 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Failure to thrive, Generalize... |
ORPHA:1895 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... |
ORPHA:894 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Hypoglycemia, D... |
ORPHA:79239 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Fail... |
OMIM:614702 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Hydr... |
OMIM:616222 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I... |
ORPHA:177910 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Lymphadenopathy, G... |
ORPHA:2221 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Diabetes mellitus, Microcytic anemia, Hydro... |
ORPHA:168569 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Melanocytic nevu... |
ORPHA:500 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Cln3 Disease |
|
Vacuolated lymphocytes, Pigmentary retinopathy, T-wave inversion, Bradycardia, Hirsutism |
ORPHA:228346 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... |
OMIM:614072 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Postural tremor, Hand tremor |
ORPHA:99947 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Long eyelashes, Ventriculomegaly |
OMIM:618577 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Insulin resi... |
OMIM:613327 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair |
OMIM:614613 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Failure to thrive, Tricuspid regurgitation, Slow-growing hair, Highly arched eyebrow,... |
OMIM:617506 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Diabetes mellitus, Cardiomyopathy, Hypogonadism, Bradycardia, Ar... |
OMIM:609286 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Fai... |
OMIM:609757 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Portal hypertension, Congenital hepatic fib... |
ORPHA:974 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hypermelanotic macule, Hydrocephalus, Cerebral ischemia, Arrhythmia, ... |
ORPHA:60040 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hydrocephalus |
OMIM:602361 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block |
ORPHA:254361 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... |
ORPHA:99827 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... |
ORPHA:93672 |
B4Galt1-Cdg |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... |
ORPHA:330001 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... |
OMIM:261740 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Hydrocephalus, Hepatosplenomegaly, Telangiectasia, Generalized hypert... |
ORPHA:93400 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... |
ORPHA:699 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Tenorio Syndrome |
|
Thick eyebrow, Hypoglycemia, Raynaud phenomenon, Hydrocephalus, Syncope, Hypoinsulinemia, Ventric... |
OMIM:616260 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Cholestasis, Cirrhosis... |
OMIM:614576 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Increased CSF lactate, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Failure to thr... |
OMIM:619272 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus, Hypertrichosis |
OMIM:618590 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hydrocephalus, Hypertension, Abnormality of the liver, Increased... |
ORPHA:2169 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Insulin resistance, Pulmonary insufficiency, Intention tremor |
OMIM:619322 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hypoplastic ... |
OMIM:185070 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Melanocytic nevus |
OMIM:612247 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hyperte... |
OMIM:614008 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Generalized hyperpigmentation... |
ORPHA:3322 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Dystonia |
OMIM:614654 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Small nail |
OMIM:614219 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
ORPHA:171839 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia |
OMIM:610015 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619576 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... |
OMIM:249400 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411515 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Hydrocephalus, Polysplenia, Abnormal sperm motili... |
ORPHA:244 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Hypoglycemia, Supernumerary nipple, Spl... |
ORPHA:373 |
Dextrocardia |
|
Abnormal EKG, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal situs, T-wave in... |
ORPHA:1666 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Opisthotonus |
OMIM:619814 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
Optic Pathway Glioma |
|
Fatigable weakness, Hydrocephalus |
ORPHA:2086 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Leg dystonia, Increased CSF lactate, Lateral ventricle dilatation, Bradycardia, N... |
ORPHA:565624 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Thick eyebrow, Hydrocephalus, Colpocephaly, Long eyelashes, Failur... |
OMIM:619833 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... |
ORPHA:91348 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Coarse hair, Thic... |
ORPHA:585 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Cryptorchidism, Synophrys, Hydrocephalus, Opisthotonus, Choreoathetosis, Hypopi... |
OMIM:614969 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Failure to thrive in infancy, Abn... |
ORPHA:1340 |
Muenke Syndrome |
|
Hydrocephalus, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Highly arched eyebrow, Portal hypertension, Tremor, Congen... |
ORPHA:1454 |
Emanuel Syndrome |
|
Torticollis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve ste... |
OMIM:609029 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorr... |
ORPHA:398079 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormality of retinal pigmentation, Congestive heart failure, Splenomegaly, Hydroc... |
OMIM:309900 |
Bresek Syndrome |
|
Cryptorchidism, Alopecia, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Hypoglycemia, Sparse axillary hair... |
ORPHA:91355 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive, Highly arched eyebrow, Retinal telangiectasia |
OMIM:620157 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker mal... |
OMIM:220210 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Mottled pigmentation, Bradycardia, Large for gestational age |
ORPHA:226313 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Failure to thriv... |
OMIM:610768 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Hogue-Janssen Syndrome 2 |
|
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Cryptorchidism, Hydrocephalus, Hypopi... |
ORPHA:1647 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to thri... |
OMIM:612938 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism, Melanocytic nevus |
ORPHA:377 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Pulmonic stenosis, Ao... |
ORPHA:96170 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Bradycardia, T... |
OMIM:617397 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thick hair, Congestive... |
ORPHA:505248 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Abnormal fingernail morphology, Hydrocephalus, Meningocele, Anencephaly, Spinal dy... |
ORPHA:1908 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Crouzon Syndrome |
|
Hydrocephalus, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Hydrocephalus, Low... |
OMIM:115150 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Leopard Syndrome 1 |
|
Bundle branch block, Delayed menarche, Cryptorchidism, Spina bifida occulta, Hypoplasia of the ov... |
OMIM:151100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Alopecia totalis, Normochromic anemia, B... |
OMIM:618775 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Hydrocephalus, Obesity |
ORPHA:2180 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Irregular hyperpigm... |
ORPHA:2969 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Tetanus |
|
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia |
ORPHA:3299 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Hypoglycemia, Ventriculomegaly |
OMIM:616355 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... |
OMIM:607361 |
Triploidy |
|
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Hydroc... |
ORPHA:3376 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational... |
ORPHA:84064 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis... |
ORPHA:25 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Holoprosencephaly |
|
Encephalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Highly arched eyebr... |
ORPHA:2162 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenome... |
OMIM:607014 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hydrocephalus, White hair, Ocular albinism, Hypochromic anemia, Gener... |
ORPHA:2720 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Tremor, Aqueductal stenosis, Hydrocephalus, Hypertension... |
ORPHA:58 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:176270 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Thin eyebrow, Sparse hair |
OMIM:619320 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Heart block, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hepa... |
ORPHA:228308 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt... |
OMIM:259710 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Aortic valve stenosis, Da... |
ORPHA:459061 |
Trisomy 17P |
|
Hydrocephalus, High anterior hairline, Low posterior hairline, Aortic valve stenosis, Generalized... |
ORPHA:261290 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Abnormali... |
ORPHA:93473 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ventriculomegaly, Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsi... |
ORPHA:581 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:90051 |
Joubert Syndrome 14 |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypert... |
OMIM:614424 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Impotence |
OMIM:268800 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... |
ORPHA:97214 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy |
OMIM:207950 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Male infertility, Primary testicular failure, Congesti... |
ORPHA:85450 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Telangiectasia, Pigmentary retinopathy, Frontal upsweep of hair, Dandy-Walker malf... |
OMIM:612582 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age |
OMIM:613330 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Bradycardia, Opisthotonus |
OMIM:220120 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele |
ORPHA:2119 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ... |
ORPHA:163746 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hy... |
OMIM:616084 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... |
OMIM:612863 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Ventriculomegaly, Thick eyebrow, Hydrocephalus, Long eyelashes, Dan... |
OMIM:617281 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Mucopolysaccharidosis Type 1 |
|
Abnormality of the tonsils, Congestive heart failure, Splenomegaly, Hydrocephalus, Low anterior h... |
ORPHA:579 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... |
ORPHA:98754 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hydrocephalus, Abnormality of the hairline, Decreased body weight |
OMIM:614886 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Anemia |
ORPHA:53 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Depigmentation/hyperpigmentation of skin, Heart murmur, ... |
ORPHA:3309 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Coarse hair, Thick eyebrow |
OMIM:253220 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Congenital Myopathy 22A, Classic |
|
Synophrys, Tricuspid regurgitation, Bradycardia, Normal pressure hydrocephalus |
OMIM:620351 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Cardiomyopathy, Mitral regurg... |
OMIM:253200 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... |
ORPHA:626 |
Diabetic Embryopathy |
|
Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Cryptorchidism |
ORPHA:1926 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|