Human genes for Laurence-Moon syndrome
Laurence-Moon syndrome [DOID:1930]
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.
Synonyms: Laurence-Moon syndrome, DOID:1930, LaurenceMoon syndrome, Laurence-Moon disease, Laurence-Moon disorder ...
Linkouts: OMIM