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- B1d39ca73433665b1fd11638c78373af6 hasDbXref "Orphanet:1520" @default.
- B1d39ca73433665b1fd11638c78373af6 type Axiom @default.
- B1d39ca73433665b1fd11638c78373af6 annotatedProperty IAO_0000115 @default.
- B1d39ca73433665b1fd11638c78373af6 annotatedSource MONDO_0010570 @default.
- B1d39ca73433665b1fd11638c78373af6 annotatedTarget "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." @default.