Ring chromosome 14 with normal number of chromosomes (Q105288): Difference between revisions
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A síndrome do cromossomo 14 em anel é uma anomalia cromossômica caracterizada por déficit intelectual, transtornos de pigmentação da pele e da retina, convulsões e características dismórficas, incluindo occipital plano, dobras epicânticas, olhos inclinados para baixo, ponte nasal plana, narinas voltadas para cima, pescoço curto e orelhas grandes com implantação baixa. | |||
| description / en | description / en | ||
Ring chromosome 14 syndrome is a chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. | |||
Revision as of 11:24, 17 August 2026
Ring chromosome 14 syndrome is a chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1211029320 |
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| English | Ring chromosome 14 with normal number of chromosomes |
Ring chromosome 14 syndrome is a chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. |
