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| BabyScreen+ newborn screening v1.114 | SLC33A1 | Tommy Li Added phenotypes Congenital cataracts, hearing loss and low serum copper and ceruloplasmin; Spastic paraplegia, autosomal dominant for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin |
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