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GENATLAS PHENOTYPE
last update : 18-06-2018
Symbol ALAZS
Location 4q25
Name Alazami syndrome
Corresponding gene LARP7
Main clinical features
  • facial dysmorphism, severe intellectual disability, and primordial dwarfism, short stature (-4 SD), and developmental delay with involuntary hand movements and poor speech
  • nonspecific and inconsistent skeletal findings, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia and a bone age consistent with chronological age
  • consistent dysmorphic features included malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)