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    | Phenotype #0000021044
        
          | Individual ID | 00024928 |  
          | Associated disease | ID |  
          | Diagnosis/Initial | - |  
          | Diagnosis/Definite | - |  
          | Inheritance | Familial, autosomal recessive |  
          | Phenotype details | see paper, detailed description; incl. distinct facial features, hypotonia, seizures, abnormal skeletal,endocrine and ophthalmologic findings |  
          | Age/Examination | - |  
          | Age/Diagnosis | - |  
          | Age/Onset | - |  
          | Phenotype/Onset | - |  
          | Protein | - |  
          | Owner name | Johan den Dunnen |  
          | Database submission license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International   |  
          | Created by | Johan den Dunnen |  
          | Date created | 2014-11-21 16:53:58 +01:00 (CET) |  
          | Date last edited | N/A |  |  
 
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