primary autosomal recessive microcephaly 3

Term ID

DOID:0070286

Synonyms

MCPH3

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. https://www.ncbi.nlm.nih.gov/pubmed/15793586

References

OMIM:604804

Ontology

Human Disease ( DOID:0070286 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations