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GENATLAS PHENOTYPE
last update : 27-10-2011
Symbol MGORS1
Location 1p32.3
Name Meier-Gorlin syndrome 1
Corresponding gene ORC1
Main clinical features
  • severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation (PMID: 21358633))