Term Name: | primary autosomal recessive microcephaly 30 |
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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. |
Ontology: | Human Disease [DOID:0051041] ( DOID:0051041 ) |