primary autosomal recessive microcephaly 7

Term ID

DOID:0070278

Synonyms

MCPH7

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. https://www.ncbi.nlm.nih.gov/pubmed/19215732

References

MIM:612703

Ontology

Human Disease ( DOID:0070278 )

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