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Q48090163-E88DA639-BABC-4724-986E-41BFB09D3416
Q48090163-E88DA639-BABC-4724-986E-41BFB09D3416
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48090163-E88DA639-BABC-4724-986E-41BFB09D3416
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
P2860
Q48090163-E88DA639-BABC-4724-986E-41BFB09D3416
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48090163-E88DA639-BABC-4724-986E-41BFB09D3416
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c65782468d1fd197922327523360c308268964c7
P2860
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome