Oliver–McFarlane syndrome (Q7087988)
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An autosomal recessive disease 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.
- trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Long eyelashes-intellectual disability syndrome
- Eyelashes, Long, With Mental Retardation
- OMCS
- OLIVER-MCFARLANE SYNDROME
- OLIVER-MCFARLANE SYNDROME; OMCS
- Trichomegaly With Mental Retardation, Dwarfism, and Pigmentary Degeneration of Retina
- Oliver-McFarlane syndrome
- long eyelashes-intellectual disability syndrome
- eyelashes long mental retardation
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Oliver–McFarlane syndrome |
An autosomal recessive disease 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. |
|
Statements
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Identifiers
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Sitelinks
Wikipedia(1 entry)
- enwiki Oliver–McFarlane syndrome