Schimke syndrome | |
---|---|
Other names |
|
Schimke syndrome is a rare autosomal recessive disorder. [2]
The disorder was first described in 1971 by Schimke. [3]
Most people with this disorder are diagnosed at age 6. [4]
Tests for mutations in the SMARCAL1 can confirm the diagnosis. [5]
The exact prevalence is unknown but is said to occur in 1 in a million births in North America. [5] The disorder is said to occur in 1 in 1 million or 1 in 3 million people in North America. [6]
Schimke syndrome | |
---|---|
Other names |
|
Schimke syndrome is a rare autosomal recessive disorder. [2]
The disorder was first described in 1971 by Schimke. [3]
Most people with this disorder are diagnosed at age 6. [4]
Tests for mutations in the SMARCAL1 can confirm the diagnosis. [5]
The exact prevalence is unknown but is said to occur in 1 in a million births in North America. [5] The disorder is said to occur in 1 in 1 million or 1 in 3 million people in North America. [6]