TMEM165-congenital disorder of glycosylation

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

Also known as: CDG syndrome type IIk, CDG-IIk, CDG2K, TMEM165-CDG, TMEM165-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIk, congenital disorder of glycosylation type 2k, congenital disorder of glycosylation type IIk

0 clinical trials for this condition and its sub-types, 0 tagged with TMEM165-congenital disorder of glycosylation itself.