{"Name":"Polymicrogyria","DiseaseID__c":"GARD:0018818","id":18818,"encodedName":"polymicrogyria","IsDeleted":false,"Disease_Name_Full__c":"Polymicrogyria","Xref_IDs__c":"4945003; C0266464; C116936; D065706; DOID:0080918; HP:0002126; MEDGEN:78605; MONDO:0000087; ORPHA:35981","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0000087","Disease_Description__c":"A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.","GARD_Name__c":"Polymicrogyria","GARD_Synonym__c":"micropolygyria; more grooves in brain","Curated_Disease_Description_Source__c":"MONDO:0000087","Curated_Disease_Description__c":"Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Researchers have identified multiple forms of polymicrogyria. The mildest form  is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication. Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:35981","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000087","ORPHANET_ID__c":"ORPHA:35981","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polimicrogiria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"polimicrogiria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Researchers have identified multiple forms of polymicrogyria. The mildest form  is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication. Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.","Curated_Disease_Description_Source__c":"MONDO:0000087","GARD_Synonym__c":"micropolygyria; more grooves in brain","Name":"Polymicrogyria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"PMG Awareness Organization","Website__c":"https://pmgawareness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:35981"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/35981","Source__c":"C0266464; MONDO:0000087; ORPHA:35981","Xref__c":"ORPHA:35981"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116936","Source__c":"C0266464; MONDO:0000087","Xref__c":"C116936"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=4945003","Source__c":"MONDO:0000087","Xref__c":"4945003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266464","Source__c":"C0266464","Xref__c":"C0266464"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080918","Source__c":"MONDO:0000087","Xref__c":"DOID:0080918"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78605","Source__c":"C0266464","Xref__c":"MEDGEN:78605"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065706","Source__c":"C0266464; MONDO:0000087","Xref__c":"D065706"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000087","Source__c":"GARD:0018818","Xref__c":"MONDO:0000087"},{"URL__c":"https://medlineplus.gov/genetics/condition/polymicrogyria","Source__c":"GARD:0018818","Xref__c":"https://medlineplus.gov/genetics/condition/polymicrogyria"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002126","Source__c":"C0266464","Xref__c":"HP:0002126"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","X-linked dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["micropolygyria"," more grooves in brain"]}