Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... |
ORPHA:1008 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1E |
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Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Tremor, Ventriculomegaly, Kinetic tremor |
OMIM:611808 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Thrombocytopenia, Hydrocephalus, Hypertension |
OMIM:166990 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Atrial Septal Defect, Sinus Venosus Type |
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Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Ventriculomegaly, Dilated cardiomyopathy, Fatigable weakness of skelet... |
ORPHA:206559 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Jaundice, Hydrocephalus, Frontal hirsutism |
OMIM:129850 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair, Hydrocephalus, Congestive heart failure, Failure to thri... |
OMIM:269920 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, ... |
OMIM:610333 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Naxos Disease |
|
Sudden cardiac death, Sparse body hair, Sparse eyebrow, Right bundle branch block, Right ventricu... |
OMIM:601214 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Ventricular... |
ORPHA:563 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II dia... |
ORPHA:100 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Encephalocele, Premature graying of hair, Hepatitis, Iri... |
ORPHA:381 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Hydrocephalus, Thrombocytopenia, Dystonia |
OMIM:619302 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Intention tremor, Failure to thrive, Dystonia, Atriove... |
OMIM:614407 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Sparse facial hair, Azoospermia, Absent facial hair, Hypergonadotropic hypogonadis... |
ORPHA:2183 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Hydrocephalus, Dilated cardiomyo... |
ORPHA:398124 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Small nail, Tremor, Hydrocephalus |
OMIM:619470 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Diabetes mellitus, Ventricular tachycardia, Palpitat... |
ORPHA:263297 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... |
OMIM:181350 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Hypopigme... |
ORPHA:33445 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Hepatomegaly |
OMIM:300884 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Jaundice, Hydrocephalus, Abnormality of retinal pigmentation, Lymphaden... |
ORPHA:858 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, We... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Premat... |
OMIM:602668 |
Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Alopecia of scalp, Hydrocephalus |
ORPHA:1532 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
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 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Ventricular escape rhythm, Failure to thrive, Mitral re... |
OMIM:616201 |
Hemochromatosis, Type 1 |
|
Alopecia, Splenomegaly, Telangiectasia, Cirrhosis, Impotence, Azoospermia, Congestive heart failu... |
OMIM:235200 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Long eyelashes, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
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 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly, Brady... |
OMIM:619048 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
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 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus |
ORPHA:250994 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Synophrys, Hydrocephalus, Semilobar holoprosenceph... |
OMIM:609637 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventriculomegaly, Impaired glucose tolerance, Glucose intolerance, Hydrocephalu... |
OMIM:615630 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thriv... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thriv... |
ORPHA:71526 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Bradycardia, Increased CSF lactate |
OMIM:616277 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Impaired glucose tolerance, Ventricular bigeminy, Arrhythmia, Failure t... |
OMIM:610131 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Failure to thrive, Hypo... |
ORPHA:70472 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyperglycorrhachia, Syncope, ST segment ... |
ORPHA:90065 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Pettigrew Syndrome |
|
Hydrocephalus, Choreoathetosis, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... |
OMIM:115197 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus |
ORPHA:26 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased body weight, Ventriculomegaly, Bundle branch block, Obesity, First degree atrioventricu... |
ORPHA:589821 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Cafe-au-lait spot, Hydrocephalus, Obesity, Increased body w... |
ORPHA:759 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Hydrocep... |
ORPHA:137675 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Temple Syndrome |
|
Small for gestational age, Type II diabetes mellitus, Hydrocephalus, Recurrent hypoglycemia, Few ... |
ORPHA:254516 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Obesity, Hydrocephalus, Hypogonadism |
ORPHA:141333 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Hydrocephalus, Abnorm... |
ORPHA:2701 |
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 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... |
ORPHA:99106 |
Whipple Disease |
|
Hypotension, Anemia, Cachexia, Insulin resistance, Hydrocephalus, Erectile dysfunction, Generaliz... |
ORPHA:3452 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin,... |
ORPHA:163596 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Dystonia, Bradycardia, Ventriculomegaly |
OMIM:616299 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Synophrys, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Scorpion Envenomation |
|
Priapism, Cardiogenic shock, Prominent U wave, T-wave inversion, Bundle branch block, Congestive ... |
ORPHA:466677 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... |
ORPHA:79477 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Hepatic steatosis, Premature ventricular cont... |
OMIM:212138 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Hydrocephalus, Failure to thrive, Hirsutism, Low posterior hairline,... |
ORPHA:1895 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... |
ORPHA:894 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Hydrocephalus, Intracranial hemorrhage, Lymphopenia, H... |
OMIM:617053 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Hypertension, Diabetes mellitus, Vitiligo, Opisthotonus, Ta... |
OMIM:184850 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Hypoglycemia, Failure to thrive, Dystonia... |
OMIM:614702 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypogonadotropic h... |
ORPHA:177910 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Hydrocephalus |
ORPHA:1672 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Lymphadenopathy, G... |
ORPHA:2221 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Hand tremor, Postural tremor |
ORPHA:99947 |
H Syndrome |
|
Alopecia, Abnormal eyebrow morphology, Facial telangiectasia, Hypogonadism, Hydrocephalus, Azoosp... |
ORPHA:168569 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Congenital hepatic fibrosis |
OMIM:619111 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Postural tremor, Secondary amenorrhea, Premat... |
ORPHA:79239 |
Cln3 Disease |
|
T-wave inversion, Hirsutism, Bradycardia, Pigmentary retinopathy, Vacuolated lymphocytes |
ORPHA:228346 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hydrocephalus, Hirsutism, Ventriculomegaly |
OMIM:175700 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... |
OMIM:614072 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Noonan Syndrome With Multiple Lentigines |
|
Decreased fertility, Melanocytic nevus, Bundle branch block, Multiple lentigines, Spina bifida oc... |
ORPHA:500 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... |
OMIM:214500 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Premature ovarian insufficiency, Diabetes mellitus, Arrhythmia, Bradycardia, Cardio... |
OMIM:609286 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Leukemia, Ventriculomegaly |
OMIM:602501 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Insulin resistance, Hepatic steatosis, Failure to thrive, Prolong... |
OMIM:613327 |
Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Subependymal cysts, Decreased CSF glutamine concentration, Neonatal... |
OMIM:610015 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Alopecia, Encephalocele, Absent fingernai... |
ORPHA:974 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Cerebral ischemia, Hydrocephalus, Failure to thrive, Arrhythmia, Telangiectasia... |
ORPHA:60040 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... |
ORPHA:99827 |
Temple Syndrome |
|
Small for gestational age, Hydrocephalus, Maturity-onset diabetes of the young, Overweight, Trunc... |
OMIM:616222 |
Krabbe Disease |
|
Failure to thrive, Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block |
ORPHA:254361 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
B4Galt1-Cdg |
|
Small for gestational age, Hydrocephalus, Hepatomegaly, Splenomegaly, Dandy-Walker malformation |
ORPHA:79332 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... |
ORPHA:330001 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Hydrocephalus, Congestive heart failure, Ne... |
OMIM:261740 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Hydrocephalus, Asplenia |
OMIM:602361 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Juvenile Dermatomyositis |
|
Alopecia, Mucosal telangiectasiae, Weight loss, Bundle branch block, Telangiectasia of the skin, ... |
ORPHA:93672 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Choreoathetosis, Hydrocephalus, Failure to thrive, Hypoglycemia, He... |
OMIM:231670 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Congestive heart failure |
OMIM:300886 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Long eyelashes, Ventriculomegaly |
OMIM:618577 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Generalized hypertrichosis, Hydrocephalus, Hepatosplenomegaly, Hepa... |
ORPHA:93400 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Right bundle branch block, Curly hair, Cafe-au-lait spot, Sparse lateral ... |
OMIM:617506 |
Pearson Syndrome |
|
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... |
ORPHA:699 |
Nephronophthisis 18 |
|
Cholestasis, Hydrocephalus, Hypertension, Portal fibrosis |
OMIM:615862 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Low anterior hairline |
OMIM:613153 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Ventriculomegaly, Hydrocephalus, Pancytopenia, Failure to thrive, Cholestasis, Hepatom... |
OMIM:614576 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Diabetes mellitus, Blue irides, Red hair, Obesity |
OMIM:614613 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation |
OMIM:220220 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Hydrocephalus |
ORPHA:363717 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Ventriculomegaly, Failure to thrive, Increased CSF lactate, Opis... |
OMIM:619272 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Bradycardia |
OMIM:614654 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Right bundle branch block, Pulmonary insufficiency, Intention tremor |
OMIM:619322 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Tenorio Syndrome |
|
Ventriculomegaly, Raynaud phenomenon, Syncope, Hydrocephalus, Hypoglycemia, Hypoinsulinemia, Thic... |
OMIM:616260 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Right bundle branch block, Hypertrichosis |
OMIM:618590 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Small for gestational age, Peritonitis, Shock, Leukocy... |
ORPHA:391673 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Melanocytic nevus |
OMIM:612247 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypoglycemia |
OMIM:601005 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Ventriculomegaly, Hydrocephalus, Hypertension, Pancytopenia, Failure to... |
ORPHA:2169 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Epistaxis, Hypoplastic spleen, Thrombocytopenia, Subarachn... |
OMIM:185070 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
Williams-Beuren Region Duplication Syndrome |
|
Horizontal eyebrow, Ventriculomegaly, Small for gestational age, Hydrocephalus, Long eyelashes, F... |
OMIM:609757 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Ventriculomegaly, Premature graying of hair, Generalized hypopigmentat... |
ORPHA:3322 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Lateral ventricle dilatation, Hydrocephalus, Low anterior hairline |
OMIM:614219 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Sparse eyebrow, Right bundle branch block, Sparse scal... |
OMIM:614008 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Hydrocephalus |
OMIM:616521 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma, Numerous congenital melanocyt... |
OMIM:249400 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage |
ORPHA:398189 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Highly arched eyebrow |
OMIM:613776 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Right bundle branch block, Tricuspid regurgitation |
OMIM:619576 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Ventriculomegaly, Polysplenia, Hydrocephalus, Female infertili... |
ORPHA:244 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:411515 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Hydrocepha... |
ORPHA:1666 |
Optic Pathway Glioma |
|
Fatigable weakness, Hydrocephalus |
ORPHA:2086 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Ventriculomegaly, Hydrocephalus, Long eyelashes, Failure to thrive... |
OMIM:619833 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Abnormal hair morphology, Male infertility |
ORPHA:3000 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:397951 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Mottled pigmentation, Prolonged neonatal jaundice, Bradycardia, Large for gestational age |
ORPHA:226313 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity, Hydrocephalus |
ORPHA:171839 |
Nasu-Hakola Disease |
|
Hydrocephalus, Acute leukemia, Ventriculomegaly |
ORPHA:2770 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Hepatomegaly, Splenome... |
OMIM:618541 |
Simpson-Golabi-Behmel Syndrome |
|
Small nail, Bundle branch block, Polysplenia, Supernumerary nipple, Hepatoblastoma, Prolonged QT ... |
ORPHA:373 |
Sheehan Syndrome |
|
Impotence, Decreased female libido, Sparse axillary hair, Sparse pubic hair, Normochromic anemia,... |
ORPHA:91355 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Coarse hair, Thick eyebrow, Spl... |
ORPHA:585 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hydrocephalus, Hypopigmented skin patches |
ORPHA:53271 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Bradycardia |
ORPHA:95717 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Low posterior hairline, Aortic valve stenosis, Pulmonic stenosis, Dandy-Walker mal... |
OMIM:220210 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614120 |
Bresek Syndrome |
|
Alopecia, Neonatal death, Hydrocephalus |
ORPHA:85284 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Hydrocephalus, Congestive heart failure, Abnormality of retinal pigmentation, Hepat... |
OMIM:309900 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathet... |
OMIM:608643 |
Thanatophoric Dysplasia Type 2 |
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Holoprosencephaly, Hydrocephalus, Encephalocele, Ventriculomegaly |
ORPHA:93274 |
Joubert Syndrome With Hepatic Defect |
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Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Hydrocephalus, Tremor, Hepatomega... |
ORPHA:1454 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
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Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... |
ORPHA:437572 |
Greig Cephalopolysyndactyly Syndrome |
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Hydrocephalus |
ORPHA:380 |
Spermatogenic Failure 2 |
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Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Functioning Gonadotropic Adenoma |
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Abnormality of secondary sexual hair, Impotence, Decreased female libido, Infertility, Hydrocepha... |
ORPHA:91348 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Small nail, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Abnormal f... |
ORPHA:1908 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Obesity, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Long Qt Syndrome 5 |
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Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Cardiofaciocutaneous Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Brittle hair, Hydrocephalus, Multiple lentigines, Generalized ... |
ORPHA:1340 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Sp... |
OMIM:610768 |
Cardiofaciocutaneous Syndrome 1 |
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Curly hair, Absent eyelashes, Pulmonic stenosis, Hydrocephalus, Multiple lentigines, Hypertrophic... |
OMIM:115150 |
Intellectual Developmental Disorder, X-Linked 30 |
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Hydrocephalus |
OMIM:300558 |
Ebstein Malformation Of The Tricuspid Valve |
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Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... |
ORPHA:1880 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
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Hydrocephalus, Ventriculomegaly, Abnormal hair whorl |
OMIM:616362 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Pulmonary arterial hypertension, Leukopenia, Anemia, Thick hair, Hydrocephalus, Long eyelashes, C... |
ORPHA:505248 |
Crouzon Syndrome |
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Hydrocephalus, Melanocytic nevus, Hypopigmented skin patches |
ORPHA:207 |
Osteopetrosis, Autosomal Recessive 1 |
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Anemia, Hydrocephalus, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Abnormality of skin pigmentation, Obesity, Hydrocephalus |
ORPHA:2180 |
Spermatogenic Failure 15 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Persistent fetal circulation, Small for gestational age, Alopecia totalis, Hypertrophic cardiomyo... |
OMIM:618775 |
Tetanus |
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Hypertension, Tremor, Opisthotonus, Bradycardia, Tachycardia |
ORPHA:3299 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia, Male infertility |
OMIM:618948 |
Mucopolysaccharidosis, Type Vii |
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Hydrocephalus, Hirsutism, Hepatomegaly, Coarse hair, Thick eyebrow, Splenomegaly, Cardiomyopathy |
OMIM:253220 |
Proteus-Like Syndrome |
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Irregular hyperpigmentation, Hydrocephalus, Communicating hydrocephalus, Heterochromia iridis, Th... |
ORPHA:2969 |
Emanuel Syndrome |
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Ventriculomegaly, Hypogonadism, Infertility, Hydrocephalus, Failure to thrive, Aortic valve steno... |
ORPHA:96170 |
Emanuel Syndrome |
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Ventriculomegaly, Torticollis, Hydrocephalus, Failure to thrive, Aortic valve stenosis, Pulmonic ... |
OMIM:609029 |
Pontocerebellar Hypoplasia, Type 7 |
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Hypopigmentation of the skin, Ventriculomegaly, Synophrys, Choreoathetosis, Hydrocephalus, Hirsut... |
OMIM:614969 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Lateral ventricle dilatation, Neonatal hypoglycemia, Leg dystonia, Increased CSF lactate, Bradyca... |
ORPHA:565624 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Cardiomyopathy |
ORPHA:370959 |
Gorlin Syndrome |
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Hypogonadotropic hypogonadism, Hydrocephalus, Melanocytic nevus |
ORPHA:377 |
Piebaldism |
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Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Ventriculomegaly, Hypogonadism, Type II diabetes mellitus, Infertil... |
ORPHA:398079 |
Hurler Syndrome |
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Enlarged tonsils, Hydrocephalus, Hepatosplenomegaly, Aortic regurgitation, Mitral regurgitation, ... |
OMIM:607014 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Pseudo-Torch Syndrome 2 |
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Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Hepatomegaly, Thrombocytopen... |
OMIM:617397 |
Short Qt Syndrome 2 |
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Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Meckel Syndrome, Type 3 |
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Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... |
OMIM:607361 |
Fabry Disease |
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Anemia, Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia o... |
ORPHA:324 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Retinal hemorrhage, Ventriculomegaly, Limb dystonia, Communicating hydrocephalus, Subependymal no... |
ORPHA:25 |
Syndromic Diarrhea |
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Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Generalized hypo... |
ORPHA:84064 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Hydrocephalus, Abnormality ... |
ORPHA:2720 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
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Hypoglycemia, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Leopard Syndrome 1 |
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Third degree atrioventricular block, Cafe-au-lait spot, Bundle branch block, Multiple lentigines,... |
OMIM:151100 |
Oculocutaneous Albinism Type 3 |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Ciliary Dyskinesia, Primary, 14 |
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Polysplenia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Osteopetrosis, Autosomal Recessive 2 |
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Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt... |
OMIM:259710 |
Hurler Syndrome |
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Abnormality of skin pigmentation, Hydrocephalus, Hypertension, Angina pectoris, Abnormality of th... |
ORPHA:93473 |
Thanatophoric Dysplasia |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Chronic Thromboembolic Pulmonary Hypertension |
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Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Oculocerebrocutaneous Syndrome |
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Alopecia, Ventriculomegaly, Hydrocephalus, Hypopigmented skin patches, Abnormal fingernail morpho... |
ORPHA:1647 |
Spermatogenic Failure, X-Linked, 2 |
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Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
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Noncommunicating hydrocephalus, Synophrys, Thin eyebrow, Low posterior hairline, Sparse hair |
OMIM:619320 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hypoketotic hypoglycemia, Ventriculomegaly, Hydrocephalus, Heart block, Hepatic steatosis, Hepati... |
ORPHA:228308 |
Joubert Syndrome 14 |
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Meningocele, Encephalocele, Hydrocephalus, Hypertension, Intracranial hemorrhage, Highly arched e... |
OMIM:614424 |
Mucopolysaccharidosis Type 3 |
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Pigmentary retinopathy, Thick hair, Ventriculomegaly, Reduced left ventricular ejection fraction,... |
ORPHA:581 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Hydrocephalus, Aortic valve stenosis, Da... |
ORPHA:459061 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Hydrocephalus |
OMIM:304100 |
Metatropic Dysplasia |
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Hydrocephalus |
ORPHA:2635 |
Holoprosencephaly |
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Spinal dysraphism, Encephalocele, Synophrys, Hydrocephalus, Diabetes mellitus, Hypoglycemia, Dyst... |
ORPHA:2162 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Medial flaring of the eyebrow, Persistent fetal circulation, Lateral ventricle dilatation, Hydroc... |
OMIM:612863 |
D-Glyceric Aciduria |
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Failure to thrive, Hypoglycemia, Bradycardia, Opisthotonus |
OMIM:220120 |
Sepsis In Premature Infants |
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Hypotension, Splenomegaly, Anemia, Decreased body weight, Small for gestational age, Jaundice, He... |
ORPHA:90051 |
Chédiak-Higashi Syndrome |
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Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... |
ORPHA:167 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Small for gestational age, Hydrocephalus |
OMIM:613330 |
Chiari Malformation Type Ii |
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Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Opisthotonus |
OMIM:207950 |
Alexander Disease |
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Sudden cardiac death, Hypotension, Aqueductal stenosis, Hyperpigmented nevi, Hydrocephalus, Hyper... |
ORPHA:58 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly |
ORPHA:309155 |
Sandhoff Disease |
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Exaggerated startle response, Impotence, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension |
OMIM:268800 |
Azoospermia, Obstructive, With Nephrolithiasis |
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Male infertility, Obstructive azoospermia |
OMIM:301060 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Hypoplastic toenails, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to thrive, Dandy-Walker... |
OMIM:612938 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Eisenmenger Syndrome |
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Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatomegaly,... |
ORPHA:97214 |
Vitamin K Antagonist Embryofetopathy |
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Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Telangiectasia, Frontal upsweep of hair, Hydrocephalus, Pigmentary retinopathy, Dandy-Walker malf... |
OMIM:612582 |
Oculocutaneous Albinism |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Triploidy |
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Meningocele, Abnormality of the pancreas, Abnormality of the gallbladder, Hydrocephalus, Holopros... |
ORPHA:3376 |
Albers-Schönberg Osteopetrosis |
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Anemia, Abnormal leukocyte morphology, Hydrocephalus |
ORPHA:53 |
Spermatogenic Failure 75 |
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Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
3-Methylglutaconic Aciduria, Type Viii |
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Neutropenia, Ventriculomegaly, Jaundice, Neonatal hypoglycemia, Failure to thrive, Tremor, Dyston... |
OMIM:617248 |
Tetrasomy 5P |
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Pulmonary arterial hypertension, Heart murmur, Hydrocephalus, Congestive heart failure, Failure t... |
ORPHA:3309 |
Mucopolysaccharidosis Type 1 |
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Hydrocephalus, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of the tonsils,... |
ORPHA:579 |
Oculocutaneous Albinism Type 4 |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormality of the hairline, Hydrocephalus, Decreased body weight, Cholelithiasis |
OMIM:614886 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Hyperinsulinemia, Hypopigmentation of the skin, Ventriculomegaly, G... |
OMIM:176270 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Brittle hair, Sideroblastic anemia, Communicating hydrocephalus, Hypochromic m... |
OMIM:616084 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmented skin patches,... |
ORPHA:163746 |
Mucopolysaccharidosis, Type Vi |
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Pulmonary arterial hypertension, Pulmonary insufficiency, Tricuspid regurgitation, Sinus tachycar... |
OMIM:253200 |
Osteopetrosis, Autosomal Recessive 5 |
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Anemia, Ventriculomegaly, Extramedullary hematopoiesis, Hydrocephalus, Pancytopenia, Hepatospleno... |
OMIM:259720 |
Pallister-Hall-Like Syndrome |
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Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Multiple Sulfatase Deficiency |
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Ventriculomegaly, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration, Splenomegaly |
OMIM:272200 |
Infant Acute Respiratory Distress Syndrome |
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Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
3C Syndrome |
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Ventriculomegaly, Hydrocephalus, Hypoplastic fingernail, Aortic valve stenosis, Pulmonic stenosis... |
ORPHA:7 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Abnormal lymph node morphology, Anemia, Hypogonadism, Weight loss, Hypertension, Congestive heart... |
ORPHA:85450 |
Coccidioidomycosis |
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Hypoglycorrhachia, Abnormality of the liver, Increased CSF protein concentration, Cerebral ischem... |
ORPHA:228123 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Central Neurocytoma |
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Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Atrial Standstill 2 |
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Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Trisomy 17P |
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High anterior hairline, Broad eyebrow, Hydrocephalus, Low posterior hairline, Aortic valve stenos... |
ORPHA:261290 |
Spermatogenic Failure 77 |
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Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
Large Congenital Melanocytic Nevus |
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Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmente... |
ORPHA:626 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin, Tremor |
ORPHA:79254 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Myelomeningocele, Premature grayin... |
ORPHA:3440 |
Bloom Syndrome |
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Acute myeloid leukemia, Hypopigmentation of the skin, Telangiectasia, Cafe-au-lait spot, Prematur... |
ORPHA:125 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Ventriculomegaly, Small for gestational age, Iris hypopigmentation,... |
ORPHA:98754 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hydrocephalus |
ORPHA:93262 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Axial Mesodermal Dysplasia Spectrum |
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Abnormality of the spleen, Hydrocephalus, Abnormality of the liver |
ORPHA:1834 |
Meckel Syndrome, Type 4 |
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Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Dandy-Walker mal... |
OMIM:611134 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation, Failure to thrive in infancy |
OMIM:618156 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response, Bradycardia |
OMIM:608800 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Hypoketotic hypoglycemia, Hydrocephalus, Hepatic calcification, Hepatomegaly, Arrhythmia, Cardiom... |
ORPHA:157 |
Oculocutaneous Albinism Type 2 |
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Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Cockayne Syndrome A |
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Irregular menstruation, Dry hair, Pigmentary retinopathy, Abnormality of skin pigmentation, Ventr... |
OMIM:216400 |
Spermatogenic Failure 6 |
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Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Ventriculomegaly, Small for gestational age, Iris hypopigmentation,... |
ORPHA:98793 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Irregular menstruation, Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure,... |
OMIM:616482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|