17p13.3 duplication (Q92848): Difference between revisions
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A síndrome de microduplicação 17p13.3 é uma anomalia cromossômica caracterizada por um espectro clínico comum que compreende retardo psicomotor leve a moderado, hipotonia e características dismórficas craniofaciais discretas, incluindo testa alta com protuberância frontal, nariz pequeno e boca pequena. | |||
| description / en | description / en | ||
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. | |||
Revision as of 07:58, 16 August 2026
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_288421473 |
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| English | 17p13.3 duplication |
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. |
