hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome — Definition

Hipotoni, ataksi, gelişimsel gecikme ve diş minesi defekti sendromu; this syndrome is a rare genetic disease characterized by structural defects in tooth enamel with reduction (hyotoni), coordination disorder (ataksi), motor and cognitive development. It is often caused by gene mutations affecting nervous system and dental development. Clinical findings are pronounced in early childhood and delay in the recovery of skills such as walking, speaking in patients. The diagnosis, clinical evaluation and genetic tests; the treatment is symptomatic and supporting.

The Turkish equivalent of "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" is Hipotoni, ataksi, gelişimsel gecikme ve diş minesi defekti sendromu.

This term belongs to the Diseases category.