primary autosomal recessive microcephaly 5

Term ID

DOID:0070280

Synonyms

MCPH5

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. https://www.ncbi.nlm.nih.gov/pubmed/12355089

References

MIM:608716

Ontology

Human Disease ( DOID:0070280 )

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