primary autosomal recessive microcephaly 20

Term ID

DOID:0051031

Synonyms

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. https://pubmed.ncbi.nlm.nih.gov/29343805/

References

MIM:617914

Ontology

Human Disease ( DOID:0051031 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models