On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 30 with multiple congenital anomalies and intellectual disability (read full description).

Date of Report

Mar 07, 2018

Full Name

growth differentiation factor 11

Chromosome 12 (12q13.2)


The GDF11 gene codes for a protein involved in the regulation of skeletal development (McPherron et al., 1999).

Database Links

GeneCards: GC12P055743

NCBI Gene: 10220

OMIM: 603936

UniProtKB/Swiss-Prot: O95390

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene GDF11
Inheritance Pattern Autosomal dominant
Position Chr12: 56143450
Transcript NM_005811.4
DNA Change c.1008C>G
Protein Change p.Tyr336Ter
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