14q12 microdeletion syndrome

MONDO:0016833

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.

Also known as: Del(14)(q12), monosomy 14q12

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Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0) Partial deletion of the long arm of chromosome 14 (0) Syndrome caused by partial chromosomal deletion (0)

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