Isolated lissencephaly type 1 without known genetic defects (Q94690): Difference between revisions
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Lissencefalia tipo 1 isolada sem defeitos genéticos conhecidos pertence ao grupo geneticamente heterogêneo das lissencefalias clássicas. É um diagnóstico de exclusão, quando nem malformações associadas, nem histórico familiar são recuperados, na ausência de mutações em genes sabidamente envolvidos na lissencefalia clássica. | |||
| description / en | description / en | ||
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group of classic lissencephalies. It is a diagnosis of exclusion, when neither associated malformations, nor family history is retrieved, in the absence of mutations of genes known to be involved in classic lissencephaly. | |||
Revision as of 10:04, 16 August 2026
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group of classic lissencephalies. It is a diagnosis of exclusion, when neither associated malformations, nor family history is retrieved, in the absence of mutations of genes known to be involved in classic lissencephaly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_80358651 |
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| English | Isolated lissencephaly type 1 without known genetic defects |
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group of classic lissencephalies. It is a diagnosis of exclusion, when neither associated malformations, nor family history is retrieved, in the absence of mutations of genes known to be involved in classic lissencephaly. |
