FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term primary autosomal recessive microcephaly 30 ID (Ontology) DOID:0051041 (Human Disease)
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.
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 primary autosomal recessive microcephaly 30       2
 for disease ribbon | primary autosomal recessive microcephaly 30       2
 model of | primary autosomal recessive microcephaly 30       2
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autosomal recessive disease__
primary microcephaly_________|
                             primary autosomal recessive microcephaly
                              |__primary autosomal recessive microcephaly 30  2 rec.
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MIM:620183