Term Name: primary autosomal recessive microcephaly 30
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 )

Relationships
is a type of: primary autosomal recessive microcephaly