class Information
has_age_of_onset
Infancy
has_dbxref
- ICD-10:E75.2
- ICD-11:8A44.4
- OMIM:245200
- UMLS:C0751273
notation
Clinical subtype
present_in
- United States AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000
- Worldwide AND has_point_prevalence_range : Unknown
class Relations
Subclass of
Related from
disease-causing germline mutation(s) in