Metadata | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/7551160, http://omim.org/entry/210720 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Majewski osteodysplastic primordial dwarfism type II [EXACT] osteodysplastic primordial dwarfism type II [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |