FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term primary autosomal recessive microcephaly 28 ID (Ontology) DOID:0051039 (Human Disease)
Definition A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.
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 primary autosomal recessive microcephaly 28       1
 for disease ribbon | primary autosomal recessive microcephaly 28       1
 model of | primary autosomal recessive microcephaly 28       1
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autosomal recessive disease__
primary microcephaly_________|
                             primary autosomal recessive microcephaly
                              |__primary autosomal recessive microcephaly 28  1 rec.
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MIM:619453