1p36 deletion (Q105605): Difference between revisions
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Monossomia 1p36 é uma síndrome de deleção cromossômica distinta caracterizada usualmente por atraso grave do desenvolvimento, dificuldades comportamentais e problemas de automutilação, hipotonia e problemas de alimentação com disfagia orofaríngea são frequentes, e convulsões. Outras manifetações dismórficas, cardíacas, visuais e auditivas foram descritas. | |||
| description / en | description / en | ||
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. | |||
Revision as of 11:56, 17 August 2026
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 |
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| 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. |
