Closed MonikaTomczuk closed 6 months ago
Thank you Monika, we will get this added to the DO.
Cheers, Lynn
Hi Monika,
Thanks for reaching out! I've just included non-syndromic X-linked intellectual developmental disorder 111 as requested.
Happy Holidays!
Best, Claudia Marie Sánchez-Beato Johnson
Hi, I'd like to request the following term for MGI as mutant mice are a mouse model and OMIM has given this disorder number 111.
Label: non-syndromic X-linked intellectual developmental disorder 111 Definition: A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. Definition ref: https://pubmed.ncbi.nlm.nih.gov/35840571/ Parent DO: non-syndromic X-linked intellectual disability (DOID:0050776) DbXref: OMIM:301107
Thanks so much, Monika Tomczuk MGI Scientific Curator