primary autosomal recessive microcephaly 23

Term ID

DOID:0051034

Synonyms

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/27737959/

References

MIM:617985

Ontology

Human Disease ( DOID:0051034 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models