Metadata | |
---|---|
ID | DOID:0051041 |
Name | primary autosomal recessive microcephaly 30 |
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/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |