Oliver-McFarlane syndrome (DOID:0111271)
Alliance: disease page
Synonyms: eyelashes long mental retardation; long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Alt IDs: OMIM:275400, MESH:C536554, ORDO:3363, UMLS_CUI:C1848745
Definition: 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.