autosomal dominant primary microcephaly 26

Term ID

DOID:0051037

Synonyms

Definition

A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/32910914/

References

• MIM:150340

Ontology

Human Disease   ( DOID:0051037 )