22q13 deletion (Q67193): Difference between revisions
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A síndrome da monossomia 22q13 (síndrome da deleção 22q13.3 ou síndrome de Phelan-McDermid) é uma síndrome de microdeleção cromossômica caracterizada por hipotonia neonatal, atraso global de desenvolvimento, crescimento normal a acelerado, fala de ausente a gravemente atrasada e características dismórficas menores. | |||
| description / en | description / en | ||
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. | |||
Revision as of 15:01, 14 August 2026
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1667492731 |
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| English | 22q13 deletion |
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. |
