Term Name: Laurence-Moon syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome