Rubinstein-Taybi syndrome
Description
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.
Cell Lines
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.