primary autosomal recessive microcephaly 21

Term ID

DOID:0051032

Synonyms

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/35568357/

References

MIM:617983

Ontology

Human Disease ( DOID:0051032 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models