Table 3a. [Disorders with Brachytelephalangic Chondrodysplasia Punctata...]. - GeneReviews®

Gene(s)	Disorder	MOI	Additional Overlapping Feature	Findings Distinguishing the Disorder from CDPX1
GGCX VKORC1	Combined deficiency of vitamin K-dependent clotting factor 1 (OMIM 277450) & factor 2 (OMIM 607473)	AR	Nasal hypoplasia	Bleeding disorder due to variably ↓ levels of coagulation factors II, VII, IX, & X, & protein C, protein S, & protein Z
MGP	Keutel syndrome (OMIM 245150)	AR		More diffuse & progressive calcification of cartilage incl nose, auricles, & respiratory tract

From: Chondrodysplasia Punctata 1, X-Linked

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