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PUM1-associated developmental disability-ataxia-seizure syndrome

MedGen UID:
986826
Concept ID:
CN305446
Disease or Syndrome
Synonyms: PADDAS syndrome; SCA47
 
Monarch Initiative: MONDO:0035117
Orphanet: ORPHA589515

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPUM1-associated developmental disability-ataxia-seizure syndrome

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