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Angelman syndrome due to a point mutation

ORPHA:411511

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: Infancy
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

This disease is described under Angelman syndrome

Detailed information

General public

Guidelines

Disease review articles

Disability

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

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