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2q24 microdeletion syndrome
MONDO:00155662q24 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.
Also known as: Del(2)(q24), monosomy 2q24, 2q24 deletion, chromosome 2q24 microdeletion syndrome, deletion 2q24
2 clinical trials for this condition and its sub-types.
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Disease
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Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 2 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 2
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Partial deletion of the long arm of chromosome 2
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Syndrome caused by partial chromosomal deletion
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