primary autosomal recessive microcephaly 22

Term ID

DOID:0051033

Synonyms

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. https://pubmed.ncbi.nlm.nih.gov/27737959/

References

MIM:617984

Ontology

Human Disease ( DOID:0051033 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models