Multi- organ involvement.
Prolonged jaundice with unconjugated hyperbilirubinemia in the newborn period.
At three weeks bilirubin, AST and ALT normal. At 12 months elevated transaminases AST, ALT, myoglobin and CK.
Suspected left ventricular hypotrophy.
At three years of age Sammy has similar clinical picture as older brother Samson. Until approximately 2 years normal psychomotor development except for speech delay. Now symptoms of balance and coordination difficulties. Very clumsy and falls frequently. Symptoms of weaknesss.
Symptoms / Signs
- Delayed speech
- Mild delayed cognitive development
- Coordination and balance disturbance
Previously Considered Diagnoses
- Not completely evaluated
Genetic Variants of Interest
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