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Results 1 - 2 of 2 for Microcephaly "14," "primary," autosomal recessive
  1. ASPM gene 
    ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly ... Roosen K, Vince GH. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle- ...
    https://medlineplus.gov/genetics/gene/aspm - Genetics
  2. Nijmegen breakage syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic Testing ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics