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GENATLAS PHENOTYPE
last update : 17-11-2015
Symbol SCKL3
Location 21q22.3
HGNC id 20806
Name Seckel syndrome 3
Corresponding gene PCNT
Main clinical features
  • growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance, no pancytopenia or chromosome breaks
  • large eyes, beak-like protrusion of the nose, narrow face, and receding lower jaw, tooth anomalies, severe microcephaly
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Remark(s)