Laurence-Moon syndrome (DOID:1930)
Alliance: disease page
Synonyms: Laurence-Moon-Biedl syndrome; LNMS
Alt IDs: OMIM:245800, MESH:D007849, NCI:C34760, ORDO:2377, UMLS_CUI:C0023138
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.