OBO ID: DOID:0060609 |
Term Name: | microcephalic osteodysplastic primordial dwarfism type II | Search Ontology: | |
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Definition: | 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. (2) | ||
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Ontology: | Human Disease ( DOID:0060609 ) |
OTHER microcephalic osteodysplastic primordial dwarfism type II PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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