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| Hand and foot malformations v0.0 | NOTCH1 |
Bryony Thompson gene: NOTCH1 was added gene: NOTCH1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH1 were set to Limb, scalp and skull defects; AOS; Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) |
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