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craniofacial anomalies and anterior segment dysgenesis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus.
Mondo Term and Equivalent IDs
MONDO:0013618:  craniofacial anomalies and anterior segment dysgenesis syndrome
UMLS:C3280099: