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| Additional findings_Paediatric v0.2 | EMD | Zornitza Stark Added phenotypes Muscular dystrophy, Emery-Dreifuss for gene: EMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss |
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