Catalog

8p11.2 deletion

No MMS code

Link to WHO Definition

8p11.2 deletion – http://id.who.int/icd/entity/1782338750

8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Parents

Proximal deletions of the short arm of chromosome 8
Syndromic conditions with disorders of intellectual development as a relevant clinical feature