Clinical entity associated to the gene RALA

[OrphanetSwitzerland]

Hello,

A new creation request, in this case following a call to the Romande helpline concerning a 6-year-old child being followed up in Paris.

References:

• PMID: 30500825 - “Hiatt et al. (2018) reported 11 patients, including a pair of monozygotic twins, with a similar neurodevelopmental disorder associated with de novo heterozygous mutations in the RALA gene”.
• https://www.omim.org/entry/619311

The gene is not yet listed in Orphanet: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9839

Thank you.

[MCecile-US14]

Dear @Mickael-Orphanet,

Can you look please into this request when you get the chance? Thank you, Marie-Cécile