Catalog

Xp11.22p11.23 duplication

No MMS code

Link to WHO Definition

Xp11.22p11.23 duplication – http://id.who.int/icd/entity/834408318

Xp11.22-p11.23 microduplication syndrome is a chromosomal anomaly associated with moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common.

Parents

LD51 Structural anomalies of chromosome X, excluding Turner syndrome
Syndromic conditions with disorders of intellectual development as a relevant clinical feature