primary autosomal recessive microcephaly 24

Term ID

DOID:0051035

Synonyms

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. https://pubmed.ncbi.nlm.nih.gov/30179222/

References

MIM:618179

Ontology

Human Disease ( DOID:0051035 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models