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mental retardation, nonsyndromic autosomal recessive 3

Genetics: - autosomal recessive form associated with defects in CC2D1A gene Clinical manifestations: - severe mental retardation & psychomotor development delay in early childhood

Database Correlations

OMIM 249500

References

  1. OMIM :accession 608443
  2. UniProt :accession Q6P1N0