2q24 mikrodelesjon

Engelsk navn: 2q24 microdeletion syndrome
Engelske synonym: Del(2)(q24),Monosomy 2q24


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

Fra Orphanet

ORPHA: 1617
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

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