8p inverted duplication or deletion (Q85726): Difference between revisions
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Síndrome de duplicação invertida/deleção 8p [invdupdel(8p)] é uma anomalia cromossômica rara caracterizada clinicamente por déficit intelectual leve a grave, atraso de desenvolvimento grave (desenvolvimento psicomotor e da fala), hipotonia com tendência a desenvolver hipertonia progressiva e problemas ortopédicos graves ao longo do tempo, anomalias faciais menores e agenesia do corpo caloso. | |||||||||||||||
| description / en | description / en | ||||||||||||||
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopaedic problems over time, minor facial anomalies and agenesis of the corpus callosum. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/476283268 / rank | |||||||||||||||
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CID11:ID_476283268 | |||||||||||||||
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dki-india-ID_476283268 | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:05, 15 August 2026
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopaedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
| Language | Label | Description | Also known as |
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| default for all languages | ID_476283268 |
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| English | 8p inverted duplication or deletion |
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopaedic problems over time, minor facial anomalies and agenesis of the corpus callosum. |
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CID11:ID_476283268
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dki-india-ID_476283268
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Concluído
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13 August 2026
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