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Q35230116-39044CA7-B1AC-4BB6-AF45-989821E4D774
Q35230116-39044CA7-B1AC-4BB6-AF45-989821E4D774
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35230116-39044CA7-B1AC-4BB6-AF45-989821E4D774
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
P2860
Q35230116-39044CA7-B1AC-4BB6-AF45-989821E4D774
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35230116-39044CA7-B1AC-4BB6-AF45-989821E4D774
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
266a309a41443e1ada589228fe952eb129babd0e
P2860
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein