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NTR: non-syndromic X-linked intellectual developmental disorder 111 #1269

Closed MonikaTomczuk closed 6 months ago

MonikaTomczuk commented 7 months ago

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

lschriml commented 7 months ago

Thank you Monika, we will get this added to the DO.

Cheers, Lynn

csbjohnson commented 6 months ago

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