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Severe microcephaly v4.81 PCNT Arina Puzriakova Phenotypes for gene: PCNT were changed from MPD; microcephalic primordial dwarfism; Microcephalic Osteodysplastic Primordial Dwarfism; Microcephalic osteodysplastic primordial dwarfism, type II, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Microcephalic primordial dwarfism
Severe microcephaly v1.62 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 PCNT Louise Daugherty Source NHS GMS was added to PCNT.
Severe microcephaly PCNT Alice Gardham marked PCNT as ready
Severe microcephaly PCNT Alice Gardham commented on PCNT