FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term primary autosomal recessive microcephaly 29 ID (Ontology) DOID:0051040 (Human Disease)
Definition A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.
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 primary autosomal recessive microcephaly 29       1
 for disease ribbon | primary autosomal recessive microcephaly 29       1
 model of | primary autosomal recessive microcephaly 29       1
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autosomal recessive disease__
primary microcephaly_________|
                             primary autosomal recessive microcephaly
                              |__primary autosomal recessive microcephaly 29  1 rec.
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MIM:620047