6q terminal delesjon

Også kjent som: 6q terminal deletion syndrome
Engelsk navn: 6q terminal deletion syndrome


Definisjon

A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.

Fra Orphanet

ORPHA: 75857
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

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