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- Bc6a690d6d75aecdbc5a938772a8b87d0 hasDbXref "Orphanet:85184" @default.
- Bc6a690d6d75aecdbc5a938772a8b87d0 type Axiom @default.
- Bc6a690d6d75aecdbc5a938772a8b87d0 annotatedProperty IAO_0000115 @default.
- Bc6a690d6d75aecdbc5a938772a8b87d0 annotatedSource MONDO_0010014 @default.
- Bc6a690d6d75aecdbc5a938772a8b87d0 annotatedTarget "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." @default.