{"Name":"Isolated hereditary congenital facial paralysis","DiseaseID__c":"GARD:0008583","id":8583,"encodedName":"isolated-hereditary-congenital-facial-paralysis","IsDeleted":false,"Disease_Name_Full__c":"Isolated hereditary congenital facial paralysis","Xref_IDs__c":"733091002; C4518577; C563309; MEDGEN:1381843; MONDO:0011090; OMIMPS:601471; ORPHA:306527","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011090","Disease_Description__c":"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.","GARD_Name__c":"Isolated hereditary congenital facial paralysis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0011090","Curated_Disease_Description__c":"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:306527","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011090","ORPHANET_ID__c":"ORPHA:306527","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis facial congénita hereditaria aislada","Spanish_Description_Source__c":"ORPHA:306527","Spanish_Description__c":"Es un trastorno neurológico extremadamente infrecuente. Se sospecha que es el resultado de fallos en el desarrollo del núcleo facial y/o del nervio craneal y hasta la fecha se ha descrito en menos de 10 familias. Se manifiesta como parálisis facial no progresiva, aislada, uni- o bilateral, simétrica o asimétrica. La afectación de las ramas del nervio facial puede ser desigual.","Spanish_Disease_Name__c":"parálisis facial congénita hereditaria aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68329","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":"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.","Curated_Disease_Description_Source__c":"MONDO:0011090","Name":"Isolated hereditary congenital facial paralysis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:306527"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:306527"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS601471","Source__c":"MONDO:0011090","Xref__c":"OMIMPS:601471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1381843","Source__c":"C4518577","Xref__c":"MEDGEN:1381843"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733091002","Source__c":"C4518577; MONDO:0011090","Xref__c":"733091002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563309","Source__c":"MONDO:0011090","Xref__c":"C563309"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518577","Source__c":"C4518577","Xref__c":"C4518577"},{"URL__c":"https://www.orpha.net/en/disease/detail/306527","Source__c":"C4518577; MONDO:0011090; ORPHA:306527","Xref__c":"ORPHA:306527"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011090","Source__c":"GARD:0008583","Xref__c":"MONDO:0011090"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":[""]}