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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
rareTrichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
- Identifiers
- MONDO:0010152 OMIM:275400Orphanet:3363
- Causal genes
- PNPLA6
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- eyelashes, long with intellectual disability · eyelashes, long, with mental retardation · long eyelashes-intellectual disability syndrome · Oliver McFarlane syndrome · Oliver-McFarlane syndrome
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