Renpenning syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Renpenning syndrome

Synonyms: X-linked intellectual disability due to PQBP1 mutations | X-linked intellectual disability, Renpenning type

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR see this term) characterized by intellectual deficiency microcephaly leanness and mild short stature.

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 May 2024

Newly diagnosed with
Renpenning syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.