PArticipant 103

Participant 103

Younger brother of two brothers with SPNS1

Date of Report

Description

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

Contact

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