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What is (are) Waardenburg syndrome ? | Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes,... | |
What are the symptoms of Waardenburg syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical term... | |
How to diagnose Waardenburg syndrome ? | A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: C... | |
What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definition... | |
What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the de... | |
What is (are) Familial hyperinsulinism ? | Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feedin... | |
What are the symptoms of Familial hyperinsulinism ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical ... | |
What are the symptoms of Dykes Markes Harper syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medi... | |
What are the symptoms of Urocanase deficiency ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical term... | |
What is (are) Hyper-IgD syndrome ? | Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly fro... | |
What are the symptoms of Hyper-IgD syndrome ? | Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatl... | |
What causes Hyper-IgD syndrome ? | Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene. The gene is located at chromosome 12q24. | |
Is Hyper-IgD syndrome inherited ? | Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About one hal... | |
What are the treatments for Hyper-IgD syndrome ? | There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks. Co... | |
What is (are) Iridocorneal endothelial syndrome ? | Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe ... | |
What are the symptoms of Iridocorneal endothelial syndrome ? | The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of the pupil (the adjustable opening at the center of the iris that allows varyi... | |
What causes Iridocorneal endothelial syndrome ? | The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. | |
What are the treatments for Iridocorneal endothelial syndrome ? | It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplant can also be used to treat corneal swelling. | |
What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for... | |
What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions f... | |
What is (are) Hepatocellular carcinoma, childhood ? | Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of fac... | |
What are the symptoms of Hepatocellular carcinoma, childhood ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for the... | |
What causes Hepatocellular carcinoma, childhood ? | A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infec... | |
What is (are) Usher syndrome, type 2C ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. Al... | |
What are the symptoms of Usher syndrome, type 2C ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical t... | |
Is Usher syndrome, type 2C inherited ? | Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal r... | |
What is (are) Mosaic trisomy 8 ? | Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the a... | |
What are the symptoms of Mosaic trisomy 8 ? | The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus callosum, highly arched or cleft palate, short and larg... | |
What is (are) Hypophosphatasia ? | Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that dont begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; ... | |
What are the symptoms of Hypophosphatasia ? | The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder ... | |
What causes Hypophosphatasia ? | Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineral... | |
Is Hypophosphatasia inherited ? | Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is refe... | |
What are the treatments for Hypophosphatasia ? | Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, ... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2H ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for the... | |
What are the symptoms of N syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for N syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs a... | |
What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions ... | |
What is (are) Eales disease ? | Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeb... | |
What are the treatments for Eales disease ? | Depending on the disease stage, treatment may involve corticosteroids (systemic or periocular) and/or immunosuppressants (azathioprine, cyclosporine). Anti-tubercular therapy has been recommended by some authors, however this treatment remains controversial. Bevacizumab (Avastin), a monoclonal antibody, is sometimes us... | |
What are the symptoms of Joubert syndrome 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.... | |
What is (are) Febrile infection-related epilepsy syndrome ? | Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unkn... | |
What are the symptoms of Febrile infection-related epilepsy syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions... | |
What is (are) Permanent neonatal diabetes mellitus ? | Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems incl... | |
What are the symptoms of Permanent neonatal diabetes mellitus ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for th... | |
What is (are) Spondylocostal dysostosis 3 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... | |
What are the symptoms of Spondylocostal dysostosis 3 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medic... | |
What is (are) Multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and sym... | |
What are the symptoms of Multiple epiphyseal dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these med... | |
Is Multiple epiphyseal dysplasia inherited ? | Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mu... | |
What are the symptoms of Hairy nose tip ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Sig... | |
What is (are) Osteopetrosis autosomal recessive 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | |
What are the symptoms of Osteopetrosis autosomal recessive 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for the... | |
What are the symptoms of Muscular dystrophy white matter spongiosis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions ... | |
What are the symptoms of Mutiple parosteal osteochondromatous proliferations ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the def... | |
What are the symptoms of Ichthyosis cheek eyebrow syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these... | |
What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitio... | |
What are the symptoms of Griscelli syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.... | |
What is (are) Triploidy ? | Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptom... | |
What are the symptoms of Triploidy ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs an... | |
What are the symptoms of Tukel syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Sig... | |
What is (are) Myotonia congenita autosomal dominant ? | Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most commo... | |
What are the symptoms of Myotonia congenita autosomal dominant ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for t... | |
What is (are) Dystrophic epidermolysis bullosa ? | Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfi... | |
What are the symptoms of Dystrophic epidermolysis bullosa ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these ... | |
What is (are) Limb-girdle muscular dystrophy, type 2C ? | Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weak... | |
What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for... | |
What are the treatments for Limb-girdle muscular dystrophy, type 2C ? | There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the persons symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical ... | |
What is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate le... | |
What are the symptoms of Pseudohypoparathyroidism type 1C ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these ... | |
What is (are) Hereditary spherocytosis ? | Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have sh... | |
What are the symptoms of Hereditary spherocytosis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical ... | |
What causes Hereditary spherocytosis ? | Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. ... | |
Is Hereditary spherocytosis inherited ? | About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected indivi... | |
What are the symptoms of Spermatogenesis arrest ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical te... | |
What are the symptoms of Phosphoglycerate kinase deficiency ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for thes... | |
What is (are) Hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which t... | |
What are the symptoms of Hyperkalemic periodic paralysis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these m... | |
What is (are) Mal de debarquement ? | Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/... | |
What are the treatments for Mal de debarquement ? | Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokine... | |
What is (are) Early infantile epileptic encephalopathy 4 ? | Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizu... | |
What are the symptoms of Early infantile epileptic encephalopathy 4 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions ... | |
What are the symptoms of Dystonia 7, torsion ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms... | |
What are the symptoms of Keratolytic winter erythema ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medic... | |
What are the symptoms of Beukes familial hip dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these med... | |
What are the symptoms of Simosa cranio facial syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these med... | |
What are the symptoms of MORM syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Sign... | |
What is (are) Leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symp... | |
What are the symptoms of Leukoencephalopathy with vanishing white matter ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definit... | |
What causes Leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cell... | |
Is Leukoencephalopathy with vanishing white matter inherited ? | Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers ... | |
What are the treatments for Leukoencephalopathy with vanishing white matter ? | Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. Infections and fevers should be prevented when possible t... | |
What is (are) Progressive multifocal leukoencephalopathy ? | Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system beco... | |
What are the treatments for Progressive multifocal leukoencephalopathy ? | Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. | |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these med... | |
What is (are) Hemolytic uremic syndrome ? | Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this ... | |
What are the symptoms of Hemolytic uremic syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical... | |
What causes Hemolytic uremic syndrome ? | Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system. The condition results whe... | |
What are the symptoms of Oculoectodermal syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical ... | |
What is (are) Feltys syndrome ? | Feltys syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Feltys syndrome are asymptomati... | |
What are the symptoms of Feltys syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Feltys syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Si... | |
What causes Feltys syndrome ? | The exact cause of Feltys syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being ... |
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