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Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
rareAny hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
- Identifiers
- MONDO:0024567 OMIM:615419Orphanet:700336
- Causal genes
- NALCN
- Also known as
- hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN · IHPRF1 · NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies
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