hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
MONDO:0014176
hypotonia, infantile, with psychomotor retardation and characteristic facies
is_a
IHPRF1
related
NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies 1
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN
exact
SPAC6F6.01