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Below is an instruction from Human. Write a response. ### Instruction: Is Situs inversus inherited ? ### Response: Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Situs inversus ? ### Response: How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Situs inversus ? ### Response: How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response: What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myelocytic leukemia-like syndrome, familial, chronic ? ### Response: What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tremor hereditary essential, 2 ? ### Response: What are the signs and symptoms of Tremor hereditary essential, 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremor hereditary essential, 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pyridoxine-dependent epilepsy ? ### Response: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pyridoxine-dependent epilepsy ? ### Response: What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).

Below is an instruction from Human. Write a response. ### Instruction: What causes Pyridoxine-dependent epilepsy ? ### Response: What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pyridoxine-dependent epilepsy ? ### Response: How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ankylosing spondylitis ? ### Response: Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ankylosing spondylitis ? ### Response: What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness.

Below is an instruction from Human. Write a response. ### Instruction: Is Ankylosing spondylitis inherited ? ### Response: Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ankylosing spondylitis ? ### Response: How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cone-rod dystrophy 6 ? ### Response: What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucopolysaccharidosis type VI ? ### Response: What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wolman disease ? ### Response: Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Wolman disease ? ### Response: What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wolman disease ? ### Response: How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Idiopathic neutropenia ? ### Response: Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Idiopathic neutropenia ? ### Response: What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleidorhizomelic syndrome ? ### Response: What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spermatogenesis arrest ? ### Response: What are the signs and 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of IVIC syndrome ? ### Response: What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Wandering spleen ? ### Response: Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Wandering spleen ? ### Response: How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis hystrix, Curth Macklin type ? ### Response: What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Silicosis ? ### Response: Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Silicosis ? ### Response: What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may a

Below is an instruction from Human. Write a response. ### Instruction: What causes Silicosis ? ### Response: What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 4 ? ### Response: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 4 ? ### Response: What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Striatonigral degeneration infantile ? ### Response: What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycosylphosphatidylinositol deficiency ? ### Response: What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Leukoplakia ? ### Response: Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leukoplakia ? ### Response: What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Leukoplakia ? ### Response: How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dwarfism, mental retardation and eye abnormality ? ### Response: What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuhauser Eichner Opitz syndrome ? ### Response: What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Eosinophilic fasciitis ? ### Response: Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Eosinophilic fasciitis ? ### Response: What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Eosinophilic fasciitis ? ### Response: How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculocutaneous albinism ? ### Response: Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculocutaneous albinism ? ### Response: What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oculocutaneous albinism ? ### Response: What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal tubular dysgenesis ? ### Response: What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Polycystic liver disease ? ### Response: Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Polycystic liver disease ? ### Response: What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ? ### Response: What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) CDKL5-related disorder ? ### Response: A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A1 ? ### Response: What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spinocerebellar ataxia 2 ? ### Response: Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood.

Below is an instruction from Human. Write a response. ### Instruction: Is Spinocerebellar ataxia 2 inherited ? ### Response: How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Spinocerebellar ataxia 2 ? ### Response: How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulna hypoplasia with mental retardation ? ### Response: What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pallister-Killian mosaic syndrome ? ### Response: Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pallister-Killian mosaic syndrome ? ### Response: What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Punctate inner choroidopathy ? ### Response: Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anterior polar cataract 2 ? ### Response: What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypochromic microcytic anemia with iron overload ? ### Response: What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Muscle eye brain disease ? ### Response: Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscle eye brain disease ? ### Response: What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Muscle eye brain disease ? ### Response: What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? ### Response: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ectrodactyly cleft palate syndrome ? ### Response: What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Malignant eccrine spiradenoma ? ### Response: How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for treating this cancer.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) L-arginine:glycine amidinotransferase deficiency ? ### Response: L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? ### Response: What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Microhydranencephaly ? ### Response: Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain).

Below is an instruction from Human. Write a response. ### Instruction: What causes Microhydranencephaly ? ### Response: What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Microhydranencephaly inherited ? ### Response: Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Microhydranencephaly ? ### Response: How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Punctate palmoplantar keratoderma type 2 ? ### Response: What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipodystrophy, familial partial, type 2 ? ### Response: What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Schwannomatosis ? ### Response: What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way.

Below is an instruction from Human. Write a response. ### Instruction: Is Schwannomatosis inherited ? ### Response: Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schwannomatosis ? ### Response: How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schwannomatosis ? ### Response: How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Usher syndrome, type 1B ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Usher syndrome, type 1B ? ### Response: What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Usher syndrome, type 1B inherited ? ### Response: How is Usher syndrome 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.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Split hand split foot malformation autosomal recessive ? ### Response: Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Woodhouse Sakati syndrome ? ### Response: What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Catamenial pneumothorax ? ### Response: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Catamenial pneumothorax ? ### Response: What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Catamenial pneumothorax ? ### Response: What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Catamenial pneumothorax ? ### Response: How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Catamenial pneumothorax ? ### Response: How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Peyronie disease ? ### Response: Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Peyronie disease ? ### Response: What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juberg Marsidi syndrome ? ### Response: What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital mirror movement disorder ? ### Response: Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital mirror movement disorder ? ### Response: What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Partington syndrome ? ### Response: Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Partington syndrome ? ### Response: What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

Below is an instruction from Human. Write a response. ### Instruction: What causes Partington syndrome ? ### Response: What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.

Below is an instruction from Human. Write a response. ### Instruction: Is Partington syndrome inherited ? ### Response: Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Partington syndrome ? ### Response: How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplasia cutis congenita ? ### Response: What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Aplasia cutis congenita ? ### Response: How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect.