Catalog

Paternal 20q13.2q13.3 deletion

No MMS code

Link to WHO Definition

Paternal 20q13.2q13.3 deletion – http://id.who.int/icd/entity/821654086

Paternal 20q13.2q13.3 microdeletion syndrome is a chromosomal anomaly characterised by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3.

Parents

LD44.L0 Deletions of the long arm of chromosome 20