Also Known As
IHPRF2UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facieshypotonia, infantile, with psychomotor retardation and characteristic facies 2hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80hypotonia, infantile, with psychomotor retardation and characteristic facies type 2
Definition
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.