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- B86bbfda6f1384304f69bde1c7e43dcfe hasDbXref "Orphanet:1131" @default.
- B86bbfda6f1384304f69bde1c7e43dcfe type Axiom @default.
- B86bbfda6f1384304f69bde1c7e43dcfe annotatedProperty IAO_0000115 @default.
- B86bbfda6f1384304f69bde1c7e43dcfe annotatedSource MONDO_0010539 @default.
- B86bbfda6f1384304f69bde1c7e43dcfe annotatedTarget "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." @default.