Catalog

Distal 17q deletion

No MMS code

Link to WHO Definition

Distal 17q deletion – http://id.who.int/icd/entity/19213480

Chromosome 17q deletion syndrome (deletion of the long arm of chromosome 17) is a very rare chromosomal disorder characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.

Parents

Distal deletions of the long arm of chromosome 17
Syndromic conditions with disorders of intellectual development as a relevant clinical feature