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Metadata
ID DOID:0060609
Name microcephalic osteodysplastic primordial dwarfism type II
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.
http://omim.org/entry/210720, https://www.ncbi.nlm.nih.gov/pubmed/7551160
Xrefs

ICD10CM:Q87.1

MESH:C565898

OMIM:210720

ORDO:2637

Subsets

DO_rare_slim

Synonyms

Majewski osteodysplastic primordial dwarfism type II [EXACT]

osteodysplastic primordial dwarfism type II [EXACT]

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal recessive disease

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