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Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
rareAny hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.
- Identifiers
- MONDO:0014777 OMIM:616801Orphanet:700333
- Causal genes
- UNC80
- Also known as
- hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2 · hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80 · hypotonia, infantile, with psychomotor retardation and characteristic facies type 2 · IHPRF2 · UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies
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