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Items: 3

1.

Congenital disorder of glycosylation, type IIw

Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). [from OMIM]

MedGen UID:
1794196
Concept ID:
C5561986
Disease or Syndrome
2.

Bleeding disorder, platelet-type, 22

Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018). [from OMIM]

MedGen UID:
1673822
Concept ID:
C5193111
Disease or Syndrome
3.

Bleeding with minor or no trauma

Significant bleeding or hemorrhage without significant precipitating factor. [from HPO]

MedGen UID:
868738
Concept ID:
C4023143
Finding; Pathologic Function

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