Ring chromosome 14
Også kjent som: Ringkromosom 14 syndrom
Engelsk navn: Ring chromosome 14 syndrome
Engelske synonym: Ring 14,Ring chromosome 14
A rare chromosomal anomalie characterized 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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 1440
Klassifiseringsnivå: DisorderICD-10: Q93.2