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Laurence-Moon syndrome
Summary
- Synonym
-
- LNMS
- Definition
- A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
- Super Class
- autosomal recessive disease syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0009830 | Peripheral neuropathy |
| HP:0010442 | Polydactyly |
