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GENATLAS PHENOTYPE
last update : 28-04-2017
Symbol NATD
Location Xq28
Name N-terminal acetyltransferase deficiency
Other name(s) Ogden syndrome
Corresponding gene NAA10
Other symbol(s) OGDNS
Main clinical features
  • postnatal growth failure and premature aging
  • dysmorphic features including wrinkled forehead, prominent eyes, delayed closing of fontanels, thickened lids, large ears, short columella, microretrognathia and broad great toes
  • redundant skin , cutaneous capillary malformations, and fine hair and eyebrows
  • developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies
    • Genetic determination sex linked
    Function/system disorder mental retardation
    osteo-articular
    Type malformation
    Gene product
    Name catalytic subunit of the major human N-terminal acetyltransferase (NAA10)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense      
    Remark(s)