Term Name: | Laurence-Moon syndrome |
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Synonyms: | Laurence-Moon-Biedl syndrome, 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. |
Ontology: | Human Disease [DOID:1930] ( DOID:1930 ) |