primary autosomal recessive microcephaly 30

Term ID

DOID:0051041

Synonyms

Definition

A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. https://pubmed.ncbi.nlm.nih.gov/35044816/

References

• MIM:620183

Ontology

Human Disease   ( DOID:0051041 )