fenil210/Med-Lamma huggingface dataset:
What is (are) Landau-Kleffner syndrome ?
Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years). + GARD + Landau-Kleffner syndrome
What are the symptoms of Landau-Kleffner syndrome ?
What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). It most frequently occurs in children between the ages of 2 and 8. The condition affects the part of the brain that controls comprehension and speech. Some children with Landau-Kleffner syndrome develop behavioral problems, including hyperactivity, attention deficits, temper outbursts, impulsivity, and/or withdrawn behaviors. Seizures occur in up to 2/3 of affected children. These complex partial, generalized clonic and atypical absence seizures are generally easy to control and often resolve spontaneously before adolescence.  The Human Phenotype Ontology provides the following list of signs and symptoms for Landau-Kleffner 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) Intellectual disability 5% Agnosia - Aphasia - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Delayed speech and language development - Dysphasia - EEG with centrotemporal focal spike waves - Incomplete penetrance - Seizures - Speech apraxia - Variable expressivity - 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. + GARD + Landau-Kleffner syndrome
How to diagnose Landau-Kleffner syndrome ?
How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains. + GARD + Landau-Kleffner syndrome
What are the symptoms of Griscelli syndrome type 3 ?
What are the signs and symptoms of Griscelli syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome 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) Generalized hypopigmentation 90% Ocular albinism 7.5% Autosomal recessive inheritance - Heterogeneous - Large clumps of pigment irregularly distributed along hair shaft - Silver-gray hair - White eyelashes - 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. + GARD + Griscelli syndrome type 3
What are the symptoms of Dystonia 18 ?
What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. 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) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - 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. + GARD + Dystonia 18
What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ?
What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung 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 medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lung lobation 90% Abnormality of female internal genitalia 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the thymus 90% Hypoplasia of the ear cartilage 90% Hypoplastic toenails 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Urogenital fistula 90% Abnormality of metabolism/homeostasis - Abnormality of the endocrine system - Abnormality of the respiratory system - Anal atresia - Autosomal recessive inheritance - Renal agenesis - Ureteral agenesis - Ureteral dysgenesis - 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. + GARD + Thymic-Renal-Anal-Lung dysplasia
What are the symptoms of Joubert syndrome with oculorenal anomalies ?
What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nephropathy 90% Chorioretinal coloboma 50% Iris coloboma 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow forehead 50% Nystagmus 50% Ptosis 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Prominent nasal bridge 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Agenesis of cerebellar vermis - Aplasia/Hypoplasia of the cerebellar vermis - Ataxia - Autosomal recessive inheritance - Blindness - Brainstem dysplasia - Dilated fourth ventricle - Dyspnea - Hepatic fibrosis - Hepatic steatosis - Hepatomegaly - Heterotopia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Molar tooth sign on MRI - Nephronophthisis - Occipital meningocele - Polycystic kidney dysplasia - Postaxial foot polydactyly - Postaxial hand polydactyly - Renal corticomedullary cysts - Retinal dystrophy - Stage 5 chronic kidney disease - Tachypnea - Tubular atrophy - Tubulointerstitial fibrosis - Undetectable electroretinogram - Wide mouth - 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. + GARD + Joubert syndrome with oculorenal anomalies
What is (are) Norrie disease ?
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential. + GARD + Norrie disease
What are the symptoms of Norrie disease ?
What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. 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 retinal vasculature 90% Anterior chamber synechiae 90% Aplasia/Hypoplasia of the iris 90% Cataract 90% Chorioretinal abnormality 90% Deeply set eye 90% Hypotelorism 90% Macrotia 90% Narrow nasal bridge 90% Neoplasm of the eye 90% Opacification of the corneal stroma 90% Sclerocornea 90% Vascular neoplasm 90% Abnormality of the vitreous humor 50% Aplasia/Hypoplasia of the lens 50% Cognitive impairment 50% Erectile abnormalities 50% Nystagmus 50% Retinal detachment 50% Sensorineural hearing impairment 50% Stereotypic behavior 50% Venous insufficiency 50% Abnormality of immune system physiology 7.5% Abnormality of the diencephalon 7.5% Abnormality of the helix 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Decreased body weight 7.5% Developmental regression 7.5% Diabetes mellitus 7.5% Ectopia lentis 7.5% EEG abnormality 7.5% Glaucoma 7.5% Hallucinations 7.5% Hyperreflexia 7.5% Hypertonia 7.5% Hypoplasia of the zygomatic bone 7.5% Involuntary movements 7.5% Microcephaly 7.5% Migraine 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Sleep disturbance 7.5% Thin vermilion border 7.5% Aggressive behavior - Blindness - Dementia - Hypoplasia of the iris - Intellectual disability, progressive - Microphthalmia - Psychosis - Retinal dysplasia - Retinal fold - Shallow anterior chamber - 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. + GARD + Norrie disease
What causes Norrie disease ?
What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease. + GARD + Norrie disease
What are the treatments for Norrie disease ?
How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired. + GARD + Norrie disease
What are the symptoms of Visceral steatosis ?
What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. 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 bleeding - Abnormality of the genitourinary system - Autosomal recessive inheritance - Coma - Hepatic steatosis - Hypocalcemia - Hypoglycemia - Jaundice - Kernicterus - Lethargy - Muscular hypotonia - Myocardial steatosis - Neonatal death - Renal steatosis - Seizures - 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. + GARD + Visceral steatosis
What are the symptoms of Trichodental syndrome ?
What are the signs and symptoms of Trichodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental 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 eyelashes 90% Abnormality of the nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Fine hair 90% Microcephaly 90% Narrow forehead 90% Narrow nasal bridge 90% Reduced number of teeth 90% Slow-growing hair 90% Autosomal dominant inheritance - Brittle hair - Conical tooth - Hypodontia - Shell teeth - Sparse hair - 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. + GARD + Trichodental syndrome
What are the symptoms of Severe congenital neutropenia autosomal dominant ?
What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia 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 these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute monocytic leukemia - Anemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital agranulocytosis - Eosinophilia - Growth abnormality - Increased antibody level in blood - Infantile onset - Monocytosis - Neutropenia - Recurrent bacterial infections - Thrombocytosis - 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. + GARD + Severe congenital neutropenia autosomal dominant