hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.
MONDO:0014176
hypotonia, infantile, with psychomotor retardation and characteristic facies
is_a
IHPRF2
exact
UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies type 2
exact