FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term primary autosomal recessive microcephaly 15 ID (Ontology) DOID:0070277 (Human Disease)
Definition A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
Also Known As "MCPH15" ; "NEDMISBA" ; "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"
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autosomal recessive disease__
primary microcephaly_________|
                             primary autosomal recessive microcephaly
                              |__primary autosomal recessive microcephaly 15
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Synonyms
  • "MCPH15" EXACT OMO:0003012
    "NEDMISBA" EXACT OMO:0003012
    "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT
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MIM:616486