microcephalic osteodysplastic primordial dwarfism type II
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An osteochondrodysplasia that is a form of 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_0007636 url:https://www.ncbi.nlm.nih.gov/pubmed/7551160 url:http://omim.org/entry/210720 http://purl.obolibrary.org/obo/ECO_0007645 ]
Synonyms: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II