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Q52744998-8F980F1A-C878-4563-A82E-1DE0C4B30862
Q52744998-8F980F1A-C878-4563-A82E-1DE0C4B30862
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52744998-8F980F1A-C878-4563-A82E-1DE0C4B30862
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
P2860
Q52744998-8F980F1A-C878-4563-A82E-1DE0C4B30862
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52744998-8F980F1A-C878-4563-A82E-1DE0C4B30862
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
0b9e276bd8fecbe17dcca066fedc803192074cc0
P2860
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.