Study: NCT04319796

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)

Intervention type: OTHER
Intervention: Data set as defined by the ERN Research Workgroup of the European Commission
Description: The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data:~* Name of specialist center~* Pseudonym:~* Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth~* Sex~* Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death~* Age of onset~* Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE~* Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/~* Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/~* Agreement to be contacted for research purposes: Yes/No~* Biological samples (Yes / No)~* Link to a biobank (Link / No)~* Classification of disability (Disease group specific score)