/hypotonia, infantile, with psychomotor retardation and characteristic facies 1
hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Rare Disease
MONDO:0024567
Also Known As
NALCN hypotonia, infantile, with psychomotor retardation and characteristic facieshypotonia, infantile, with psychomotor retardation and characteristic facies 1hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCNIHPRF1Ihprf
Definition
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
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