Article
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
American journal of medical genetics. Part A - 1 May 2021
Das Sweta, Godbole Koumudi, Abraham Suneetha Susan Cleave, Ganesan Paramasivam, Kamdar Payal, Danda Sumita
Abstract excerpt
Alazami syndrome (ALAZS) (MIM 615071) is a rare autosomal recessive disorder characterized by short stature, dysmorphic facial features, developmental delay, and impaired intellect. It was first reported in a Saudi Arabian family in 2012. Three Indian patients affected with ALAZS, one boy aged 13 years and other two sisters in their 40s are presented. These patients had few unreported dysmorphic facial features:...
Topics
- Adolescent
- Adult
- Developmental Disabilities
- Dwarfism
- Female
- Genetic Predisposition to Disease
- Humans
- India
- Intellectual Disability
- Male
- Phenotype