Trisomy 12p

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Synonyms: Duplication 12p

A partial autosomal trisomy characterized by developmental delay and intellectual disability generalized hypotonia postnatal growth retardation variable brain and heart anomalies and dysmorphic features including frontal bossing round face full cheeks low-set ears broad nasal bridge short nose with anteverted nares long philtrum thin upper lip vermilion and everted thick lower lip. Unspecific associated congenital anomalies have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Trisomy 12p?

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