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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

MIM:620183

Parent Relationships

is_a primary autosomal recessive microcephaly

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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