Non-specific syndromic intellectual disability ORPHA:528084 - subtypes?

[Orphanet-ES]

Dear all,

Following the discussion in issue #173 , I have thought that perhaps it could be relevant to create subtypes of Non-specific syndromic intellectual disability ORPHA:528084 taking into account the mode of inheritance, as has been done for ORPHA:101685:

Rare non-syndromic intellectual disability ORPHA:101685

• Autosomal dominant non-syndromic intellectual disability ORPHA:178469
• Autosomal recessive non-syndromic intellectual disability ORPHA:88616
• X-linked non-syndromic intellectual disability ORPHA:777

I don't know why you decided to create such a classification for non-syndromic ID, but perhaps it may be of interest to our users to do the same for syndromic ID.

Kind regards,

María Elena

[Mickael-Orphanet]

Dear @Orphanet-ES ,

If we want to add the mode of inheritance to Non-specific syndromic intellectual disability, we need to review it with ERN-ITHACA, this is going to be a long process. I will keep you updated once i get any news.

Best regards, Mickaël

[Orphanet-ES]

Dear @Mickael-Orphanet ,

Thank you for considering my request. I really don't know if it is necessary to create these subtypes, but if more and more genes are incorporated into this entity, perhaps separating them according to an inheritance pattern may be of interest.

Kind regards,

María Elena

[Orphanet-ES]

Dear @Mickael-Orphanet ,

Returning to this topic, after reviewing the Orphanet classification, I have seen that Non-specific syndromic intellectual disability ORPHA:528084 is outside the group of Rare genetic syndromic intellectual disability ORPHA:183763. Since it is a syndromic disorder, shouldn't it be included in that group?

On the other hand, I understand that the three subtypes of non-syndromic ID and this non-specific ID are a catch-all for phenotypes with few cases or poorly defined but that in the future, if there is more information about it, perhaps some of these phenotypes will lead to the creation of a specific ORPHA? is that so?

Although I know that this issue will take a long time, please tell me if you have been able to tell ITHACA the possible division of ORPHA:528084 according to the inheritance pattern so that I can inform the expert who raised this issue.

Kind regards,

María Elena

[Orphanet-ES]

Dear @Mickael-Orphanet @caterina-lucano-orphanet,

Any news regarding this topic?

Kind regards,

María Elena

[Mickael-Orphanet]

Dear @Orphanet-ES,

This issue will be treated with the ERN-ITHACA. It may take more time. I will come back to you once we have decided to create or not subtypes to Non-specific syndromic intellectual disability.

Best regards, Mickael