{"Name":"Congenital hereditary facial paralysis-variable hearing loss syndrome","DiseaseID__c":"GARD:0017379","id":17379,"encodedName":"congenital-hereditary-facial-paralysis-variable-hearing-loss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital hereditary facial paralysis-variable hearing loss syndrome","Xref_IDs__c":"722389002; C4302592; MEDGEN:928261; MONDO:0017627; ORPHA:306530","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017627","Disease_Description__c":"Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","GARD_Name__c":"Congenital hereditary facial paralysis-variable hearing loss syndrome","GARD_Synonym__c":"congenital hereditary facial palsy with variable deafness; congenital hereditary facial palsy with variable hearing loss; congenital hereditary facial paralysis with variable deafness; congenital hereditary facial paralysis with variable hearing loss syndrome; congenital hereditary facial paralysis-variable deafness syndrome","Curated_Disease_Description_Source__c":"MONDO:0017627","Curated_Disease_Description__c":"Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","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:306530","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017627","ORPHANET_ID__c":"ORPHA:306530","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de parálisis facial hereditaria congénita-hipoacusia variable","Spanish_Description_Source__c":"ORPHA:306530","Spanish_Description__c":"Es un trastorno autosómico recesivo extremadamente poco frecuente caracterizado por parálisis facial bilateral con facies en máscara, pérdida auditiva neurosensorial, rasgos dismórficos (retrusión del tercio medio facial, orejas de implantación baja), y estrabismo.","Spanish_Disease_Name__c":"síndrome de parálisis facial hereditaria congénita-hipoacusia variable","Spanish_GARD_Synonym__c":"parálisis facial hereditaria congénita con hipoacusia variable; parálisis facial hereditaria congénita con sordera variable; síndrome de parálisis facial hereditaria congénita-sordera variable","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":"Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","Curated_Disease_Description_Source__c":"MONDO:0017627","GARD_Synonym__c":"congenital hereditary facial palsy with variable deafness; congenital hereditary facial palsy with variable hearing loss; congenital hereditary facial paralysis with variable deafness; congenital hereditary facial paralysis with variable hearing loss syndrome; congenital hereditary facial paralysis-variable deafness syndrome","Name":"Congenital hereditary facial paralysis-variable hearing loss syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Facial Paralysis & Bell's Palsy Foundation","Website__c":"https://facialparalysisfoundation.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":"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":"Infancy","Provided_By__c":"ORPHA:306530"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:306530"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/306530","Source__c":"C4302592; MONDO:0017627; ORPHA:306530","Xref__c":"ORPHA:306530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928261","Source__c":"C4302592","Xref__c":"MEDGEN:928261"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722389002","Source__c":"C4302592; MONDO:0017627","Xref__c":"722389002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302592","Source__c":"C4302592","Xref__c":"C4302592"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017627","Source__c":"GARD:0017379","Xref__c":"MONDO:0017627"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["congenital hereditary facial palsy with variable deafness"," congenital hereditary facial palsy with variable hearing loss"," congenital hereditary facial paralysis with variable deafness"," congenital hereditary facial paralysis with variable hearing loss syndrome"," congenital hereditary facial paralysis-variable deafness syndrome"]}