primary autosomal recessive microcephaly 8

Term ID

DOID:0070282

Synonyms

MCPH8

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. https://www.ncbi.nlm.nih.gov/pubmed/22521416

References

MIM:614673

Ontology

Human Disease ( DOID:0070282 )

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