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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:X-linked mandibulofacial dysostosis
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Accession:EFO:MONDO:0010539 term browser browse the term
Definition: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.
Synonyms:exact_synonym: X-linked mandibulofacial dysostosis with limb anomalies
 related_synonym: MFD Toriello type;   branchial arch syndrome X-linked;   mandibulofacial dysostosis Toriello type
 alt_id: MONDO:0010539
 xref: GARD:1002;   MEDGEN:375543;   MESH:C537102;   MIM:301950;   ORDO:1131;   SCTID:719813003;   UMLS:C1844918;   icd11.foundation:135565112


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        disease 0
          syndromic disease 0
            X-linked mandibulofacial dysostosis 0
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            X-linked disease 0
              X-linked mandibulofacial dysostosis 0
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