Term Name:	microcephalic osteodysplastic primordial dwarfism type II
Synonyms:	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.
Ontology:	Human Disease [DOID:0060609]   ( DOID:0060609 )