Catalog

19q13.11 deletion

No MMS code

Link to WHO Definition

19q13.11 deletion – http://id.who.int/icd/entity/1795118895

19q13.11 microdeletion is characterised by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails.