| Metadata | |
|---|---|
| ID | DOID:0060609 |
| Name | microcephalic 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. http://omim.org/entry/210720, https://www.ncbi.nlm.nih.gov/pubmed/7551160 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Majewski osteodysplastic primordial dwarfism type II [EXACT] osteodysplastic primordial dwarfism type II [EXACT] |
| Parent Relationships |