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    | Disease #04062 (BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)), OMIM:615722)
        
          | Official abbreviation | BBSOAS |  
          | Name | Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) |  
          | OMIM ID | 615722 |  
          | Human Phenotype Ontology Project (HPO) | HPO |  
          | Inheritance | Autosomal dominant |  
          | Individuals reported having this disease | 18 |  
          | Phenotype entries for this disease | 17 |  
          | Associated with 1 gene | NR2F1 |  
          | Associated tissues | - |  
          | Disease features | developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44) |  
          | Remarks | - |  
          | Date created | 2014-09-25 23:29:40 +02:00 (CEST) |  
          | Date last edited | 2025-02-24 12:35:13 +01:00 (CET) |  
 
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