|   
  
    | Phenotype #0000170581
        
          | Individual ID | 00225466 |  
          | Associated disease | - |  
          | Phenotype details | birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation |  
          | Diagnosis/Initial | neurodegenerative disorder |  
          | Inheritance | Familial, autosomal recessive |  
          | Diagnosis/Definite | CONDSIAS |  
          | Age/Examination | 15y (15 years) |  
          | 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 | 2019-02-17 09:44:27 +01:00 (CET) |  
          | Date last edited | 2021-12-08 21:22:12 +01:00 (CET) |  |  
 
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