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Seckel syndrome

Epidemiology: rare Genetics: 1) autosomal recessive 2) associated with mutations in ATR, SCKL2, SCKL3 genes 3) associated with defects in CENPJ (type 4) [2] 4) associated with defects in CEP152 (type 5) Clinical manifestations: 1) prenatal dwarfism, low birth weight 2) growth retardation 3) microcephaly with mental retardation 4) characteristic 'bird-headed' facial appearance 5) may survive into adulthood

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations

References

  1. OMIM :accession 210600
  2. OMIM :accession 613676