hypotonia, infantile, with psychomotor retardation and characteristic facies — Definition

İnfantil hipotoni, psikomotor gerilik ve karakteristik yüz görünümü; this disease is a genetic syndrome, which manifests itself with pronounced muscle tone decreased (hyotoni), accompanied by psychomotor development retardation and typical facial properties (e.g. flattened face, hypertelorism, downward mouth corners). Generally delay in neurological development, nutrition difficulties and restrictedness in motor skills are observed. The underlying causes include chromosome abnormalities or single gene mutations. The diagnosis is verified by clinical findings and genetic tests.

The Turkish equivalent of "hypotonia, infantile, with psychomotor retardation and characteristic facies" is İnfantil hipotoni, psikomotor gerilik ve karakteristik yüz görünümü.

This term belongs to the Diseases category.