mental retardation autosomal dominant type 2

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mental retardation autosomal dominant type 2

An inherited form (OMIM:614113) of mental retardation characterised by profound retardation and impaired adaptive behavior, first seen during early development.

Molecular pathology
Caused by defects of DOCK8, which encodes a putative guanine nucleotide exchange factor that activates some small GTPases by exchanging bound GDP for free GTP.
References in periodicals archive ?
To evaluate lid symmetry postoperatively, margin reflex distance-1 (MRD1) (distance from upper lid margin to light reflex) and MRD2 (distance from lower lid margin to light reflex) were recorded.
Mean MRD2 values were 6.44[+ or -]0.68 mm on the operated side and 5.97[+ or -]0.62 mm on the unoperated side.
(16) reported that successful results were achieved with subperiosteal midface lift performed in 34 patients with lower lid retraction (6 of whom had facial palsy) and that the patients whose procedure included a hard palate graft had greater improvement in MRD2. (16) In our study we performed SOOF elevation in 16 eyes of 15 patients.
Chang and Olver (9) performed an augmented LTS procedure in 14 patients with paralytic lagophthalmos and determined their mean postoperative MRD2 to be 5 mm.
Measurements have been conducted on two Philips X'Pert MRD 4-circle diffractometers (1) (in the following identified as MRD1 and MRD2, respectively).