Term Name: | Oliver-McFarlane syndrome |
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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 ) |