| 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 |