Clinical features
Autosomal recessive mutations in the LARP7 gene cause Alazami syndrome, which is characterized by short stature, microcephaly, severe intellectual disability, and facial dysmorphism (including malar hypoplasia, broad nose, deep-seated eyes, short philtrum, and macrostomia). Nonspecific and inconsistent skeletal findings, such as scoliosis and mild epiphyseal changes in the proximal phalanges, may be found in some patients.
Prevalence
The prevalence of LARP7-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
LARP7-related disorders are inherited in an autosomal recessive manner.