Ring chromosome 14 with normal number of chromosomes (Q105288)
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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 |
|---|---|---|---|
| default for all languages | ID_1211029320 |
||
| 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. |
Statements
CID11:ID_1211029320
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dki-india-ID_1211029320
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Concluído
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16 August 2026
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