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GRACILE syndrome
- GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: ...
- ... one mutation in the BCS1L gene can cause GRACILE syndrome, a severe condition that affects several body systems ... after birth.The BCS1L gene mutation that causes GRACILE syndrome changes a single protein building block (amino acid) ...
- ... called familial hyperinsulinism Familial Mediterranean fever Fanconi anemia GRACILE syndrome Gaucher disease Glycogen storage disease type I Hereditary ...