Thrombophilia due to protein C deficiency, autosomal recessive
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Sign InDescription
Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
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