PArticipant 103

Participant 103

Younger brother of two brothers with SPNS1

Date of Report


Suspected left ventricular hypertrophy.
Persistently elevated AST, ALT, LDH, CK and myoglobin.
Multi- organ involvement.


Symptoms / Signs

  • Delayed speech
  • Mild delayed cognitive development
  • Coordination and balance disturbance

Current Treatments

  • None

Prior Treatments

  • None

Considered treatments

  • None

Previously Considered Diagnoses

  • Not completely evaluated

Genetic Variants of Interest

  • SPNS1


If this participant sounds like you or someone you know, please contact us!

More pictures 

Sign up our Newsletter

Subscribe to our newsletter and you will be informed about our news and events

I read the privacy policy and I authorize UDNI - Undiagnosed Diseases Network International to process my personal data according to the information provided pursuant to art. 13 and 14 of Regulation (EU) 2016/679 of the European Parliament and of the Council