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microcephalic osteodysplastic primordial dwarfism type II
Summary
- Synonym
-
- Majewski osteodysplastic primordial dwarfism type II
- osteodysplastic primordial dwarfism type II
- 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.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0060609
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
