microcephalic osteodysplastic primordial dwarfism type II

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A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 ]

Synonyms: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II

This is just here as a test because I lose it

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DOID:0060609