1p36 deletion (Q105605)
From determinar.ia.br - Determine suas informações
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1248053946 |
||
| English | 1p36 deletion |
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. |
Statements
CID11:ID_1248053946
0 references
