8p inverted duplication or deletion (Q85726): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_476283268 |
||
| 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. |
