Renpenning syndrome ( X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type )

It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, 1 in 1 000 000 residents is affected.
Transmission: X-linked recessive
It belongs to the Group of Congenital malformations, deformations and chromosomal abnormalities disorders.

Ultimo aggiornamento :
01-07-2014
Orphanumber :
3242
Credits: Orphanet

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