Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... |
ORPHA:1008 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension, Hydrocephalus |
OMIM:166990 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus |
ORPHA:3319 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Prolonged QT interval, Atrioventricular block,... |
ORPHA:398124 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Vacuolated lymphocytes, Hypopigmentation of the skin, Splenomega... |
OMIM:269920 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Diabetes mellitus, Hypertension, ... |
ORPHA:563 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Hyperpigmentation of the s... |
OMIM:606069 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Type II diabetes mellitus, Failure to thrive, Telangiectasia of the ... |
ORPHA:100 |
Griscelli Syndrome |
|
Hypopigmented skin patches, Hepatomegaly, Leukopenia, Silver-gray hair, Lymphadenopathy, White ha... |
ORPHA:381 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ventriculomegaly, Fatigable weakne... |
ORPHA:206559 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Lymphadenopathy,... |
ORPHA:858 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, CSF lymphocytic pleiocytosis, Splenomegaly, Ventriculomegaly, Hepatosplenomegaly, H... |
OMIM:610333 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive ... |
ORPHA:163596 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus, Jaundice |
OMIM:129850 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Familial Dilated Cardiomyopathy |
|
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Failure to thrive, Palpitation... |
ORPHA:217607 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... |
ORPHA:848 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Low posterior hairline, Absent facial hair, Hydrocephalus, Hypergonadotropic hypogon... |
ORPHA:2183 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Tremor, Hypopigmentation of hair, Pr... |
ORPHA:33445 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Weight loss, Aortic regurgitation, Restrictive ... |
ORPHA:75566 |
Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Hydrocephalus, Toenail dysplasia |
ORPHA:1532 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Amenorrhea, Azoosperm... |
OMIM:235200 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia, Ventriculomegaly, Tremor, Increased CSF lactate |
OMIM:617248 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Long eyelashes, Hydrocephalus, Ventriculomegaly |
OMIM:617281 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia, Hydrocephalus |
OMIM:619302 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenom... |
ORPHA:231226 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Small nail, Hydrocephalus |
OMIM:619470 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ve... |
OMIM:615630 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Anisopoikilocytosis, Hyperpigmentation of the skin, Splenomegaly, Hypersp... |
ORPHA:231214 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... |
OMIM:609637 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, Hyperglycorrhachia, Syncope, Hypertension, Hyperglycemia, ST s... |
ORPHA:90065 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Mental Retardation, Buenos Aires Type |
|
Blue irides, Intrahepatic biliary atresia, Failure to thrive, Curly eyelashes, Long eyelashes, Hy... |
OMIM:249630 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Cholestasis, Ob... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Hypopigmentation of the skin, Cholestasis, Ob... |
ORPHA:71526 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus |
ORPHA:250994 |
Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Whipple Disease |
|
Myocarditis, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Pericarditis, Generalized hyper... |
ORPHA:3452 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus |
ORPHA:26 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hydrocephalus, ... |
OMIM:616222 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... |
ORPHA:75565 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrioventricular block, Left bundle branch bl... |
OMIM:115197 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Brady... |
OMIM:614407 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation... |
ORPHA:79477 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Bradycardia, Hepatic steatosis, Congestive heart f... |
OMIM:619048 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:141333 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... |
OMIM:214500 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Hydrocephalus, Few ... |
ORPHA:254516 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Hydrocephalus, Obesity, Increased body weight, Cafe-au-lait... |
ORPHA:759 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Low posterior hairline, Sparse scalp hair, Pulmonic stenosis, Hydroc... |
ORPHA:2701 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... |
OMIM:616201 |
Mirage Syndrome |
|
Intracranial hemorrhage, Hypoglycemia, Leukopenia, Anemia, Hydrocephalus, Lymphopenia, Hypergonad... |
OMIM:617053 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Failure to thrive, Hepatic steatosis, Increased CSF lactate, Congest... |
ORPHA:70472 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Classic Galactosemia |
|
Postural tremor, Secondary amenorrhea, Hepatomegaly, Hypoglycemia, Oligomenorrhea, Male infertili... |
ORPHA:79239 |
H Syndrome |
|
Facial telangiectasia, Hypertrichosis, Amenorrhea, Azoospermia, Lymphadenopathy, Hyperpigmentatio... |
ORPHA:168569 |
Stiff-Person Syndrome |
|
Hypertension, Opisthotonus, Anemia, Tachycardia, Vitiligo, Exaggerated startle response, Diabetes... |
OMIM:184850 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Edinburgh Malformation Syndrome |
|
Hirsutism, Failure to thrive, Brushfield spots, Hydrocephalus, Generalized hirsutism, Low posteri... |
ORPHA:1895 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:304340 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Priapism, Cardiac... |
ORPHA:466677 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Failu... |
ORPHA:99106 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Atrial fibrillation, Failure to thrive, Atrioventricular block, Ventr... |
ORPHA:137675 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Hepatomegaly, Left-to-right shunt, Abnormal P wave, Systolic heart mur... |
ORPHA:1329 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613154 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Hydrocephalus |
ORPHA:1672 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hypoglycemic seizures, Cholestasis, Red hair |
OMIM:609734 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, Hypo... |
ORPHA:177910 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Meningocele, Abnormal hair morphology, White hair, White eyelashes, H... |
ORPHA:894 |
Krabbe Disease |
|
Failure to thrive, Autoimmune thrombocytopenia, Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hirsutism, Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Lymphadenopathy, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypo... |
ORPHA:2221 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Failure to thriv... |
ORPHA:2169 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Hydrocephalus, Extram... |
OMIM:259720 |
Pearson Syndrome |
|
Neutropenia, Cardiac conduction abnormality, Hyperpigmentation of the skin, Splenomegaly, Diabete... |
ORPHA:699 |
Coach Syndrome 2 |
|
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Hydrocephalus |
OMIM:619111 |
Adams-Oliver Syndrome |
|
Sparse hair, Leukopenia, Congenital hepatic fibrosis, Failure to thrive, Alopecia, Pulmonary arte... |
ORPHA:974 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Hand tremor, Hydrocephalus |
ORPHA:99947 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Craniofacial Dyssynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Ventriculomegaly, Hydrocephalus, Choles... |
OMIM:614576 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hirsutism, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Failure ... |
OMIM:613327 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, Ventriculomegaly, Hydrocephalus... |
ORPHA:60040 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia |
ORPHA:464453 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... |
ORPHA:99827 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Atriovent... |
OMIM:212138 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Freckling, Bundle branch block, Melanocytic nevus, Pulmonic stenosis... |
ORPHA:500 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Telangiectasia, Hepatosplenomegaly, Generalized hypertrichosis, Hydrocephalus, Abno... |
ORPHA:93400 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Diabetes mellitus, Obesity, Fair hair, Red hair |
OMIM:614613 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus |
OMIM:220220 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Hydrocephalus, Asplenia |
OMIM:602361 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Premature graying of hair, Anem... |
ORPHA:3322 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Hydrocephalus, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block |
ORPHA:254361 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long eyelashes, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Melanocytic nevus |
OMIM:612247 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, White hair, Hypochromic anemia, Hydrocephalus, Iris hypopigmentation, Abnormalit... |
ORPHA:2720 |
Dextrocardia |
|
Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdominal situs, Hydrocephalus, ... |
ORPHA:1666 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:300864 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Communicating hydrocephalus, Hypochromic microcytic anemia, Schistocytosis, Br... |
OMIM:616084 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Ventriculomegaly, Female infertility, Male infertility, Hydroc... |
ORPHA:244 |
Tenorio Syndrome |
|
Syncope, Hypertrichosis, Hypoglycemia, Raynaud phenomenon, Ventriculomegaly, Thick eyebrow, Hydro... |
OMIM:616260 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus, Premature ovarian insufficiency, Ar... |
OMIM:609286 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613153 |
Lead Poisoning |
|
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... |
ORPHA:330015 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Hypertrichosis, Leukopenia, Mit... |
ORPHA:505248 |
Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus |
ORPHA:352682 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Abnormal hair morphology, Male infertility |
ORPHA:3000 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal... |
ORPHA:391673 |
Juvenile Dermatomyositis |
|
Pericarditis, Weight loss, Alopecia, Telangiectasia of the skin, Cardiomyopathy, Bundle branch bl... |
ORPHA:93672 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Bradycardia, Decreased CSF glutamine concentration, Dilation ... |
OMIM:610015 |
Optic Pathway Glioma |
|
Hydrocephalus, Fatigable weakness |
ORPHA:2086 |
Popov-Chang syndrome |
|
Hypertension, Failure to thrive, Coarse hair, Pulmonic stenosis, Hydrocephalus, Lymphopenia |
OMIM:618428 |
Chromosome 17P13.1 Deletion Syndrome |
|
Highly arched eyebrow, Hydrocephalus |
OMIM:613776 |
Nasu-Hakola Disease |
|
Hydrocephalus, Acute leukemia, Ventriculomegaly |
ORPHA:2770 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Failure to thrive, Pe... |
OMIM:612561 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus |
ORPHA:79332 |
Hurler Syndrome |
|
Hepatomegaly, Hirsutism, Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Splenomegaly... |
OMIM:607014 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... |
ORPHA:99104 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Mental Retardation, Autosomal Dominant 35 |
|
Hypoglycemia, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hypertrichosis, Hydrocephalus, Right bundle branch block |
OMIM:618590 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Coarse hair, Splenomegaly, Thick eyebrow, Hydr... |
ORPHA:585 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Mental Retardation, Autosomal Dominant 36 |
|
Hydrocephalus, Ventriculomegaly, Abnormal hair whorl |
OMIM:616362 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Highly arched eyebrow, Hypertension, Hydrocephalus |
OMIM:614424 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hydrocephalus, Hypermelanotic macule |
ORPHA:53271 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus, Numerous congenital melanocyt... |
OMIM:249400 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Pulmonic stenosis, Hydrocephalus, Low posterior hairline, Aortic valve... |
OMIM:220210 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Hydrocephalus, Abnormal leukocyte morphology |
ORPHA:53 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:163961 |
Lissencephaly 5 |
|
Hydrocephalus |
OMIM:615191 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Paroxysmal supraventricular tachycardia, Nail dystrophy, Absent eyebrow, Sparse... |
OMIM:601375 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Dandy-Walker malformation, Highly arched eyebrow, Mitral regurgitation, Failure to thrive, Freckl... |
OMIM:617506 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Iris hypopigmentation, Pancytopen... |
ORPHA:167 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:98791 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity, Hydrocephalus |
ORPHA:171839 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Mend Syndrome |
|
Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus |
OMIM:300960 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1528 |
Bresek Syndrome |
|
Neonatal death, Alopecia, Hydrocephalus |
ORPHA:85284 |
Syndromic Diarrhea |
|
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Hepatic fibrosis, Small for gestati... |
ORPHA:84064 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormality of retinal pigmentation, Hypertrichosis, Splenomegaly, Hydrocephalus, C... |
OMIM:309900 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Failure to thrive, Hydrocephalus |
OMIM:612940 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261102 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Sheehan Syndrome |
|
Oligomenorrhea, Hypoglycemia, Amenorrhea, Sparse axillary hair, Orthostatic hypotension, Palpitat... |
ORPHA:91355 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Obesity, Hydrocephalus |
ORPHA:2180 |
Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Right bundle branch block, Intention tremor, Insulin resistance |
OMIM:619322 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Tricuspid regurgitation, Abnormal atrioventricu... |
ORPHA:439 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Highly arched eyebrow, Intrahepatic biliary atresia, Congenital hepatic fibrosis, N... |
ORPHA:1454 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Infertility, Failure to thrive, Ventriculomegaly, Hypogonadism, Pulmon... |
ORPHA:96170 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Hyperpigmentation of the skin, Absent eyebrow, Ab... |
OMIM:115150 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Ventriculomegaly, Thrombocytopenia |
OMIM:617397 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Hypertension, Lymphadenopathy, Weight loss, Anemia, Abnormality of th... |
ORPHA:85450 |
Nestor-Guillermo Progeria Syndrome |
|
Hypertension, Sparse eyelashes, Mitral regurgitation, Failure to thrive, Nail dystrophy, Alopecia... |
OMIM:614008 |
Simpson-Golabi-Behmel Syndrome |
|
Dandy-Walker malformation, Hepatomegaly, Small nail, Hypoglycemia, Prolonged QT interval, Hepatob... |
ORPHA:373 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Abnormality of the m... |
ORPHA:91348 |
Crouzon Disease |
|
Hypopigmented skin patches, Hydrocephalus, Melanocytic nevus |
ORPHA:207 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Hirsutism, Coarse hair, Cardiomyopathy, Splenomegaly, Thick eyebrow, Hydrocephalus |
OMIM:253220 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Opisthotonus, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, ... |
OMIM:619272 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:93274 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Melanocytic nevus |
ORPHA:377 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Irregular hy... |
ORPHA:2969 |
Nephronophthisis 18 |
|
Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Bradycardia |
OMIM:601005 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity, Hydrocephalus |
OMIM:601794 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Infertility, Type II diabetes mellitus, Oligomenorrhea, Generalized... |
OMIM:176270 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Mitral regurgitation, Right bundle branch block |
OMIM:619576 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Small nail, Failure to thrive, Hydrocepha... |
OMIM:612938 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Pigmentary retinopathy, Hirsutism, Reduced ejection fraction, Atrioventricular bloc... |
ORPHA:581 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Small for gestational age, Normochromic anemia, Alopecia totalis, Ch... |
OMIM:618775 |
Cardiofaciocutaneous Syndrome |
|
Fine hair, Hypertrophic cardiomyopathy, Failure to thrive in infancy, Dystrophic fingernails, Gen... |
ORPHA:1340 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia, Opisthotonus |
OMIM:250800 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the hairline, Decreased body weight, Hydrocephalus, Cholelithiasis |
OMIM:614886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:615287 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Sparse eyebrow, Hydrocephalus, Hypoplastic toenails, Sparse scalp hair... |
ORPHA:459061 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Hurler Syndrome |
|
Hepatomegaly, Hypertension, Abnormality of skin pigmentation, Abnormality of the tonsils, Cardiom... |
ORPHA:93473 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Small nail, Anencephaly, Holoprosencephaly, Hydrocephalus, Abnormal fingernail morph... |
ORPHA:1908 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Type II diabetes mellitus, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:398079 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... |
ORPHA:97214 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... |
ORPHA:324 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Bradycardia |
ORPHA:95717 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Dandy-Walker malformation, Alopecia, Ventriculomegaly, Hydrocephalus,... |
ORPHA:1647 |
Bloom Syndrome |
|
Oligospermia, Telangiectasia, Acute lymphoblastic leukemia, Sparse eyelashes, Abnormal proportion... |
ORPHA:125 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Small for gestational age, Anemia, Tachycardia, Bradycar... |
ORPHA:90051 |
Williams-Beuren Region Duplication Syndrome |
|
Long eyelashes, Hydrocephalus, Horizontal eyebrow, Ventriculomegaly |
OMIM:609757 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... |
ORPHA:437572 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Hirsutism, Cardiomyopathy, Splenomegaly, Hydrocephalus |
OMIM:253200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Cardiomyopathy, Heart block, Ventr... |
ORPHA:228308 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Bone marrow hypocellularity, Hydrocephalus, Cafe-au-lait spot |
OMIM:614083 |
Alexander Disease |
|
Hypertension, Hyperpigmented nevi, Failure to thrive, Tremor, Hydrocephalus, Diabetes mellitus, S... |
ORPHA:58 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Bradycardia, Large for gestational age, Mottled pigmentation |
ORPHA:226313 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Pulmonary arterial hypertensio... |
ORPHA:70591 |
Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Low anterior hairline, Abnormality of the tonsils, Splenomegaly, Hyd... |
ORPHA:579 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ventriculomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein |
OMIM:272200 |
3C Syndrome |
|
Dandy-Walker malformation, Ventriculomegaly, Pulmonic stenosis, Hydrocephalus, Hypoplastic finger... |
ORPHA:7 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Hypoplasia of the ovary, Bundle... |
OMIM:151100 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus |
OMIM:241800 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Hepatomegaly, Abnormal eyebrow morphology, Splenomegaly, Hypogonadism... |
ORPHA:163746 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:225790 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thin eyebrow, Noncommunicating hydrocephalus, Low posterior hairline, Sparse hair, Synophrys |
OMIM:619320 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Pericarditis, ... |
ORPHA:228123 |
Vici Syndrome |
|
Dilated cardiomyopathy, Ocular albinism, Failure to thrive, Cardiomyopathy, Albinism, Hypopigment... |
OMIM:242840 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Tetrasomy 5P |
|
Depigmentation/hyperpigmentation of skin, Failure to thrive, Pulmonary arterial hypertension, Hyd... |
ORPHA:3309 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sparse eyelashes, Tricuspid regurgitation, Hydrocephalus, Dilation of lateral ventricles, Low pos... |
OMIM:612863 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... |
OMIM:619377 |
Triploidy |
|
Meningocele, Hepatomegaly, Abnormality of the gallbladder, Holoprosencephaly, Abnormality of the ... |
ORPHA:3376 |
Holoprosencephaly |
|
Dandy-Walker malformation, Abnormality of the spleen, Failure to thrive in infancy, Highly arched... |
ORPHA:2162 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Abnormality of skin pigmentat... |
OMIM:227646 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail, Small for gestational age |
ORPHA:621 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Thrombocytopenia, ... |
OMIM:300514 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Abnormality of the spleen, Hydrocephalus |
ORPHA:1834 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Failure to thrive, Megaloblastic anemia, Tremor, Hydrocephalus, Pigmentary retinopat... |
OMIM:277400 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Impotence |
OMIM:268800 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Male ... |
OMIM:227650 |
Trisomy 17P |
|
Broad eyebrow, Hydrocephalus, Generalized hirsutism, High anterior hairline, Low posterior hairli... |
ORPHA:261290 |
Cockayne Syndrome A |
|
Hepatomegaly, Hypertension, Thymic hormone decreased, Dry hair, Normal pressure hydrocephalus, Ab... |
OMIM:216400 |
Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... |
OMIM:607361 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus |
OMIM:187600 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Large Congenital Melanocytic Nevus |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Congenital giant melanocytic nevus,... |
ORPHA:626 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Tetanus |
|
Hypertension, Opisthotonus, Bradycardia, Tachycardia, Tremor |
ORPHA:3299 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral stenosis, Splenomegaly, Hydrocephalus, Pancytopenia |
OMIM:231005 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Classic Phenylketonuria |
|
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Myelomeningocele, Abnormality of skin pigmentation, Abnormal eyebrow ... |
ORPHA:3440 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus |
OMIM:207950 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... |
ORPHA:1880 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Telangiectasia, Hydrocephalus, Pigmentary retinopathy, Frontal upsweep... |
OMIM:612582 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Generalized hypertrichosis, Hydrocephalus |
ORPHA:2409 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:98754 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Hermansky-Pudlak Syndrome |
|
Partial albinism, Neutropenia, Ocular albinism, Weight loss, Epistaxis, Long eyelashes, Menometro... |
ORPHA:79430 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Cardiomyopathy, Hydrocephalus, Arr... |
ORPHA:157 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:98793 |
47,Xyy Syndrome |
|
Oligospermia, Male infertility, Hydrocephalus, Azoospermia |
ORPHA:8 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure |
OMIM:616482 |
Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Male infertility, Absent pubic hair, Absent axillary hair |
ORPHA:754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:177904 |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Dandy-Walker malformation, Broad nail, Short nail, Dilated fourth ventricle, Hydrocephalus |
OMIM:220219 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Hypoglycemia, Neutropenia, Subdural hemorrhage, Failure to thrive, Megalo... |
ORPHA:79282 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Infertility, Small for gestational age, Failure to thrive, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:177901 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Prader-Willi Syndrome |
|
Hypertension, Infertility, Failure to thrive, Hypopigmentation of the skin, Ventriculomegaly, Hyp... |
ORPHA:739 |
Degcags Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Low posterior hairline, Abnormal eyelash morphology, Premature ... |
OMIM:619488 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus, Neonatal hypoglycemia |
ORPHA:447788 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Infertility, Type II diabetes mellitus, Failure to thrive, Hypopigmentation of the skin, Ventricu... |
ORPHA:398069 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:617822 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Female infer... |
ORPHA:91 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Cachexia, Hepatic fibrosis, Azoospermia, Pulmonary arterial hypertensi... |
ORPHA:2072 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nail dystrophy |
OMIM:609057 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Abnormality of the pancreas |
ORPHA:1926 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Dubowitz Syndrome |
|
Fine hair, Acute lymphoblastic leukemia, Low anterior hairline, Abnormality of skin pigmentation,... |
ORPHA:235 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Obesity, HbH hemoglobin, Super... |
OMIM:141750 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Anemia, Abnormality of hair textu... |
ORPHA:667 |
Cockayne Syndrome B |
|
Hepatomegaly, Hypertension, Abnormal hair morphology, Dry hair, Small for gestational age, Normal... |
OMIM:133540 |
Fg Syndrome Type 1 |
|