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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 238769
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
It has been reported in four unrelated patients.
The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.
This microdeletion was identified by array CGH (comparative genomic hybridization).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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