Catalog

6p24pter deletion

No MMS code

Link to WHO Definition

6p24pter deletion – http://id.who.int/icd/entity/1452973874

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities that mainly affect the anterior chamber of the eye, hearing loss, and facial dysmorphism.

Parents

Distal deletions of the short arm of chromosome 6
Syndromic conditions with disorders of intellectual development as a relevant clinical feature