** TODO Organiser enterrement vie de garçon :joris:

** DONE Organiser enterrement vie de garçon :joris:

*** TODO Réserver

*** DONE Réserver

*** TODO Hébergement
*** TODO Location voiture

*** DONE Hébergement
*** DONE Location voiture

** WAIT Échanger T-shirt Chullanka

** TODO Échanger T-shirt Chullanka

* Langues
** TODO Allemand
SCHEDULED: <2022-05-05 Thu +1d>
:PROPERTIES:
:STYLE:    habit
:END:
- State "DONE"       from "TODO"       [2022-05-02 Mon 23:09]
- State "DONE"       from "TODO"       [2022-05-02 Mon 23:07]
* Sport
** TODO Revoir progression pour anneaux
SCHEDULED: <2022-05-03 Tue>

* TODO BPAN

* BPAN

* TODO BPAN

** Variants
   - /in silico/ score : variant (varsome)
** Genotype-phenotype
[cite:@saffari_quantitative_2021]
- no statistically significative result between male and female
** Physiopathology
** X-linked

** Phenotype
- mostly central nervous system. Chronology
  1. developpemental delay/seizures
  2. brain iron accumulation
  3. Movement disorders
  4. developemental regression
- non-neurological:
  - face
  - urinary incontinence
  - dysphagia
  - precocious puberty
- survival :[cite:@saffari_quantitative_2021]
** Phenotype : male and female

** Variants
- decipher : score for the gene
- /in silico/ score for our variant (varsome)
- predited consequence : no significative difference
- FIGURE: all reported variants
** Physiopathology