2q24 microdeletion syndrome

Orpha code: 1617OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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