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Intellectual disability v3.3 MMP13 Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111, Metaphyseal dysplasia, Spahr type, MIM# 250400, Spondyloepimetaphyseal dysplasia, Missouri type, MIM# 602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.468 PAH Louise Daugherty Source Victorian Clinical Genetics Services was added to PAH.
Intellectual disability PAH BRIDGE consortium edited their review of PAH
Intellectual disability PAH BRIDGE consortium edited their review of PAH
Intellectual disability PAH BRIDGE consortium reviewed PAH