Yunis-Varon disease (Q46729): Difference between revisions

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Doença causada pela falha de vários sistemas do corpo em se desenvolver corretamente durante o período pré-natal, devido à mutação do gene FIG4. Esta doença é caracterizada por displasia cleidocraniana, anomalias digitais e comprometimento neurológico grave.
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A disease caused by failure of multiple body systems to correctly develop during the antenatal period, due to mutation of the FIG4 gene. This disease is characterised by cleidocranial dysplasia, digital anomalies, and severe neurological involvement.

Revision as of 15:31, 13 August 2026

A disease caused by failure of multiple body systems to correctly develop during the antenatal period, due to mutation of the FIG4 gene. This disease is characterised by cleidocranial dysplasia, digital anomalies, and severe neurological involvement.
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LD24.23
    English
    Yunis-Varon disease
    A disease caused by failure of multiple body systems to correctly develop during the antenatal period, due to mutation of the FIG4 gene. This disease is characterised by cleidocranial dysplasia, digital anomalies, and severe neurological involvement.

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