autosomal dominant primary microcephaly 27

Term ID

DOID:0051038

Synonyms

Definition

A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/33033404/

References

• MIM:150341

Ontology

Human Disease   ( DOID:0051038 )