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 ...