| Term Name: | Oliver-McFarlane syndrome |
|---|---|
| Synonyms: | eyelashes long mental retardation, long eyelashes-intellectual disability syndrome, OMCS, trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
| 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. |
| Ontology: | Human Disease [DOID:0111271] ( DOID:0111271 ) |