Disease

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.

Synonyms

Majewski osteodysplastic primordial dwarfism type II
osteodysplastic primordial dwarfism type II

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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