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Q51805481-E3979EEA-64E4-4853-8ED5-F4C3480E0C52
Q51805481-E3979EEA-64E4-4853-8ED5-F4C3480E0C52
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Statement
http://www.wikidata.org/entity/statement/Q51805481-E3979EEA-64E4-4853-8ED5-F4C3480E0C52
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
P2860
Q51805481-E3979EEA-64E4-4853-8ED5-F4C3480E0C52
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51805481-E3979EEA-64E4-4853-8ED5-F4C3480E0C52
rank
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type
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Statement
wasDerivedFrom
87cd8f75c8667f500fc3631fe2a88aa9caafce2b
P2860
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation