Features include always present findings: Global developmental delay, Thick vermilion border, Hypertelorism, and Clinodactyly of the 5th finger and others; and common findings: Microcephaly, Open mouth, Nystagmus, and Amblyopia and others. 19 total HPO annotations.

OGT encodes O-linked N-acetylglucosamine (GlcNAc) transferase (1,046 aa). Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Highest expression in Fallopian Tube (262.8 TPM) and Spleen (257.1 TPM).

Intellectual disability, X-linked 106 has been associated with mutations in the OGT gene on chromosome X.

The OGT protein participates in O-GlcNAcylation of RIPK3 (TLR4 signaling) pathway.

OGT is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for OGT is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 106 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 11 common features.

No clinical trials have been registered for intellectual disability, X-linked 106.

15 publications have been identified in PubMed for intellectual disability, X-linked 106. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (36%), and Diagnostic / Biomarker (7%).