DISEASES

Disease-gene associations mined from literature

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