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Chromosome 14q11-q22 deletion syndrome

rare

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

Identifiers
MONDO:0013272 OMIM:613457Orphanet:261120
Part of
Partial deletion of the long arm of chromosome 14
Also known as
14q11.2 microdeletion syndrome · chromosome 14q11-q22 deletion syndrome, isolated cases · Del(14)(q11.2) · monosomy 14q11.2

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