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Additional findings_Paediatric v0.2 | FKRP | Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.2 | FKRP | Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle 2I for gene: FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | FKRP | Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I |