Catalog

2q23.1 deletion

No MMS code

Link to WHO Definition

2q23.1 deletion – http://id.who.int/icd/entity/1034590654

2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

Parents

Syndromic conditions with disorders of intellectual development as a relevant clinical feature
Medial deletions of the long arm of chromosome 2