primary autosomal recessive microcephaly 13

Term ID

DOID:0070283

Synonyms

MCPH13

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/24748105

References

MIM:616051

Ontology

Human Disease ( DOID:0070283 )

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