Preferred Label : craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal
retinal and auditory bipolar cells;
MeSH note : mutation in VSX1; also abnormal retinal and auditory bipolar neurons;
Origin ID : C565731;
UMLS CUI : C3502768;
MeSH term(s) associated for indexing
Record concept(s)
Semantic type(s)