2q24 microdeletion syndrome

Orpha code: 1617OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Del(2)(q24)
Del(2)(q24)
Monosomia 2q24
Monosomy 2q24
ORPHA code
1617
OMIM code
-
ICD10 code
Q93.5
ICD11 code
LD44.20

No additional description.

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