Chromosome 2q24 microdeletion syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1617
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Boca Raton, FL, 33429 , United States Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/ Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
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