X-linked intellectual deficit - hypotonic face (Q107473): Difference between revisions
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Déficit intelectual-face hipotônica abarca um grupo de síndromes ligadas ao X caracterizadas por déficit intelectual grave e dismorfismo facial, com outras manifestações variáveis. Este grupo inclui as síndromes de Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, Renier-Gabreels-Jasper, Smith-Fineman-Myers e Chudley-Lowry. | |||
| description / en | description / en | ||
Intellectual deficit-hypotonic facies covers a group of X-linked syndromes characterised by severe intellectual deficit and facial dysmorphism, with variable other features. This group includes the Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, Renier-Gabreels-Jasper, Smith-Fineman-Myers and Chudley-Lowry syndromes. | |||
Revision as of 14:28, 17 August 2026
Intellectual deficit-hypotonic facies covers a group of X-linked syndromes characterised by severe intellectual deficit and facial dysmorphism, with variable other features. This group includes the Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, Renier-Gabreels-Jasper, Smith-Fineman-Myers and Chudley-Lowry syndromes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_477231788 |
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| English | X-linked intellectual deficit - hypotonic face |
Intellectual deficit-hypotonic facies covers a group of X-linked syndromes characterised by severe intellectual deficit and facial dysmorphism, with variable other features. This group includes the Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, Renier-Gabreels-Jasper, Smith-Fineman-Myers and Chudley-Lowry syndromes. |
