Oliver-McFarlane syndrome

Term ID

DOID:0111271

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. https://www.ncbi.nlm.nih.gov/pubmed/25480986

References

• GARD:5266
• MESH:C536554
• OMIM:275400
• ORDO:3363
• SNOMEDCT_US_2023_03_01:719944006
• UMLS_CUI:C1848745

Ontology

Human Disease   ( DOID:0111271 )