Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Roifman syndrome ? 
 What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman 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 and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system - Abnormality of the nasopharynx - Anteverted nares - Asthma - Blepharophimosis - Brachydactyly syndrome - Broad femoral head - Broad femoral neck - Clinodactyly of the 5th finger - Cutaneous finger syndactyly - Delayed puberty - Eczema - Eosinophilia - Hepatomegaly - Hip contracture - Hyperconvex nail - Hypermetropia - Hypogonadotrophic hypogonadism - Hypoplasia of the capital femoral epiphysis - Infancy onset short-trunk short stature - Intellectual disability, borderline - Intellectual disability, mild - Intrauterine growth retardation - Irregular capital femoral epiphysis - Irregular vertebral endplates - Long eyelashes - Long philtrum - Lymphadenopathy - Muscular hypotonia - Narrow nose - Otitis media - Portal fibrosis - Premature birth - Prominent eyelashes - Recurrent infections - Recurrent pneumonia - Recurrent sinusitis - Retinal dystrophy - Short 3rd metacarpal - Short 4th metacarpal - Short fifth metatarsal - Short fourth metatarsal - Short middle phalanx of finger - Single transverse palmar crease - Splenomegaly - Spondyloepiphyseal dysplasia - Strabismus - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Pantothenate kinase-associated neurodegeneration ? 
 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.
What are the treatments for Pantothenate kinase-associated neurodegeneration ? 
 How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.
What is (are) Glucose transporter type 1 deficiency syndrome ? 
 Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the "non-epileptic" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes (mutations) in the SLC2A1 gene and is inherited in an autosomal dominant manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms.
What are the symptoms of Glucose transporter type 1 deficiency syndrome ? 
 What are the signs and symptoms of Glucose transporter type 1 deficiency syndrome? The most common form of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome), called the classic type, may be characterized by: Recurrent seizures (epilepsy) beginning in the first months of life Microcephaly (unusually small head size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i.e. involuntary eye movements, spasticity, ataxia, dystonia) Behavioral problems Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches). Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures. The Human Phenotype Ontology provides the following list of signs and symptoms for Glucose transporter type 1 deficiency 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 and Symptoms Approximate number of patients (when available) Seizures 75% Autosomal recessive inheritance 5% Abnormality of metabolism/homeostasis - Ataxia - Autosomal dominant inheritance - Babinski sign - Choreoathetosis - Confusion - Delayed speech and language development - Dysarthria - EEG abnormality - Hemiparesis - Hyperreflexia - Hypoglycorrhachia - Infantile onset - Intellectual disability - Myoclonus - Paralysis - Paroxysmal dystonia - Paroxysmal involuntary eye movements - Paroxysmal lethargy - Phenotypic variability - Postnatal microcephaly - Sleep disturbance - Spasticity - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Glucose transporter type 1 deficiency syndrome ? 
 What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is particularly important in the central nervous system since glucose is the brain's main source of energy. SLC2A1 mutations impair the function of the protein. This significantly reduces the amount of glucose available to brain cells leading to the many signs and symptoms associated with GLUT1 deficiency syndrome.
Is Glucose transporter type 1 deficiency syndrome inherited ? 
 Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GLUT1 deficiency syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Glucose transporter type 1 deficiency syndrome ? 
 How is glucose transporter type 1 deficiency syndrome diagnosed? A diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a lumbar puncture, specialized blood tests to measure the blood concentration of glucose and genetic testing.
What are the treatments for Glucose transporter type 1 deficiency syndrome ? 
 How might glucose transporter type 1 deficiency syndrome be treated? There is currently no cure for glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome); however, a special diet (called a ketogenic diet) may help control symptoms in some affected people. The GLUT1 Deficiency Foundation offers an information page with detailed information regarding the ketogenic diet. Please click on the link to access this resource.
What are the symptoms of Renal tubular acidosis, distal, type 3 ? 
 What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, type 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 medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bicarbonate-wasting renal tubular acidosis - Hypokalemia - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Periodic paralysis - Rickets - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Kniest like dysplasia lethal ? 
 What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. 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 and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Yemenite deaf-blind hypopigmentation syndrome ? 
 What are the signs and symptoms of Yemenite deaf-blind hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yemenite deaf-blind hypopigmentation 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 and Symptoms Approximate number of patients (when available) Cafe-au-lait spot 90% Delayed eruption of teeth 90% Freckling 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Macrodontia 90% Nystagmus 90% Strabismus 90% Anterior chamber synechiae 50% Gait disturbance 50% High forehead 50% Iris coloboma 50% Microcornea 50% Ocular albinism 50% Short philtrum 50% Abnormality of the palate 7.5% Blepharophimosis 7.5% Hypermetropia 7.5% Hypertonia 7.5% Taurodontia 7.5% Autosomal recessive inheritance - Chorioretinal coloboma - Numerous pigmented freckles - Patchy hypo- and hyperpigmentation - Severe sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) 15q13.3 microdeletion syndrome ? 
 15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, learning difficulties, or normal intelligence; autism; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes; the features of the syndrome are caused by the absence of these genes, which are usually necessary for normal growth and development. It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion. Treatment typically focuses on individual signs and symptoms (such as medication for seizures) when possible.
What are the symptoms of 15q13.3 microdeletion syndrome ? 
 What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion 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 and Symptoms Approximate number of patients (when available) Abnormal facial shape 50% Cognitive impairment 50% Incomplete penetrance 50% Abnormal nasal morphology 7.5% Abnormality of the pinna 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Frontal bossing 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Melanocytic nevus 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Seizures 7.5% Short stature 7.5% Strabismus 7.5% Behavioral abnormality 10/19 Muscular hypotonia 9/18 Abnormality of the palpebral fissures 7/19 Intellectual disability, moderate 6/17 Abnormality of the pinna 6/19 Intellectual disability, mild 5/17 Specific learning disability 7/25 Clinodactyly of the 5th finger 4/19 Intellectual disability, severe 3/18 Abnormality of cardiovascular system morphology 3/19 Brachydactyly syndrome 3/19 Hypertelorism 3/19 Strabismus 3/19 Synophrys 3/19 Seizures 2/18 Autosomal dominant inheritance - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How to diagnose 15q13.3 microdeletion syndrome ? 
 Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you.
What are the symptoms of Aromatase excess syndrome ? 
 What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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 and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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 eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.