primary autosomal recessive microcephaly 1

Term ID

DOID:0070285

Synonyms

MCPH1

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. https://www.ncbi.nlm.nih.gov/pubmed/12046007

References

OMIM:251200

Ontology

Human Disease ( DOID:0070285 )

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