Catalog

1p36 deletion

No MMS code

Link to WHO Definition

1p36 deletion – http://id.who.int/icd/entity/1248053946

Monosomy 1p36 is a distinct chromosome deletion syndrome characterised by usually severe developmental delay, behavioural difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described.