DISEASES

Disease-gene associations mined from literature

Human genes for Oliver-McFarlane syndrome

Oliver-McFarlane syndrome [DOID:0111271]

A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.

Synonyms:  Oliver-McFarlane syndrome,  DOID:0111271,  OliverMcFarlane syndrome,  Oliver-McFarlane disease,  Oliver-McFarlane disorder ...