Laurence-Moon syndrome
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 PNPLA6 on chromosome 19p13.2. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Laurence-Moon syndrome
- LNMS
- Laurence-Moon-Biedl syndrome
NCIthesaurus
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:1930