Ring chromosome 14 with normal number of chromosomes (Q105288): Difference between revisions

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+CID11:ID_1211029320
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+dki-india-ID_1211029320
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+Concluído
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+https://pauloleads.com.br/cases-publicos/
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+August 2026Timestamp +2026-08-16T00:00:00Z
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Latest 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
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.