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| Skeletal dysplasia v0.24 | RMRP | Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.24 | RMRP | Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.23 | RMRP |
Tiong Tan Source Victorian Clinical Genetics Services was added to RMRP. Added phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP |
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| Skeletal dysplasia v0.0 | RMRP |
Zornitza Stark gene: RMRP was added gene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250 |
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