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Core Information
Disease Name
14Q12 Microdeletion Syndrome
Standard Disease Name
14q12 microdeletion syndrome
MeSH Tree
No data
ICD-10
Q93.5
Identifiers
DO ID
No data
MeSH ID
No data
OMIM ID
No data
UMLS ID
No data
HPO ID
No data
Description and Extensions
Description
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
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Related Entities
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