{"Name":"Familial developmental dysphasia","DiseaseID__c":"GARD:0001823","id":1823,"encodedName":"familial-developmental-dysphasia","IsDeleted":false,"Disease_Name_Full__c":"Familial developmental dysphasia","Xref_IDs__c":"721220004; C1838630; C563997; MEDGEN:374015; MONDO:0010821; OMIM:600117; ORPHA:1799","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010821","Disease_Description__c":"Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.","GARD_Name__c":"Familial developmental dysphasia","GARD_Synonym__c":"billard toutain maheut syndrome; billard-toutain-maheut syndrome; foxp2-associated dysphasia","Curated_Disease_Description_Source__c":"GARD:0001823","Curated_Disease_Description__c":"Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1799","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010821","ORPHANET_ID__c":"ORPHA:1799","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disfasia congénita familiar","Spanish_Description_Source__c":"ORPHA:1799","Spanish_Description__c":"La disfasia congénita familiar, o disfasia familiar del desarrollo, es una forma grave de apraxia verbal del desarrollo caracterizada por una deficiencia del habla espontánea, de la escritura, del juicio gramatical y la repetición, una articulación deficiente, dispraxia de grado moderado a grave, un uso reducido de grupos de consonantes, y retraso de la comprensión. La audición y la inteligencia son normales.","Spanish_Disease_Name__c":"disfasia congénita familiar","Spanish_GARD_Synonym__c":"síndrome de billard-toutain-maheut","Category_Linearization__c":"ORPHA:98006","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":"Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.","Curated_Disease_Description_Source__c":"GARD:0001823","GARD_Synonym__c":"billard toutain maheut syndrome; billard-toutain-maheut syndrome; foxp2-associated dysphasia","Name":"Familial developmental dysphasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Apraxia Treatment","Website__c":"https://www.childapraxiatreatment.org/"},{"Account_Name__c":"Apraxia Kids","Website__c":"https://www.apraxia-kids.org/"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1799"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/600117","Source__c":"C1838630; MONDO:0010821; ORPHA:1799","Xref__c":"OMIM:600117"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374015","Source__c":"C1838630","Xref__c":"MEDGEN:374015"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838630","Source__c":"C1838630","Xref__c":"C1838630"},{"URL__c":"https://www.orpha.net/en/disease/detail/1799","Source__c":"C1838630; MONDO:0010821; ORPHA:1799","Xref__c":"ORPHA:1799"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721220004","Source__c":"C1838630; MONDO:0010821","Xref__c":"721220004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563997","Source__c":"MONDO:0010821","Xref__c":"C563997"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010821","Source__c":"GARD:0001823","Xref__c":"MONDO:0010821"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1799","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1799","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002474","HPO_Synonym__c":"Deficit in expressive language","HPO_Name__c":"Expressive language delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1799","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002546","HPO_Synonym__c":"Incomprehensible speech","HPO_Name__c":"Incomprehensible speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["billard toutain maheut syndrome"," billard-toutain-maheut syndrome"," foxp2-associated dysphasia"]}