|OBO ID: DOID:0060609|
|Term Name:||microcephalic osteodysplastic primordial dwarfism type II||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0060609)|
|is a type of:||
OTHER microcephalic osteodysplastic primordial dwarfism type II PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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