Мікроцефалія-низькорослість-спектр аномалій кінцівок, повязані з DONSON

Визначення(English summary)

A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.