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Oliver-McFarlane syndrome
Summary
- Synonym
-
- OMCS
- eyelashes long mental retardation
- long eyelashes-intellectual disability syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111271
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001596 | Alopecia |
| HP:0008070 | Sparse hair |
| HP:0001518 | Small for gestational age |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0009830 | Peripheral neuropathy |
| HP:0002007 | Frontal bossing |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0007818 | Central heterochromia |
| HP:0008736 | Hypoplasia of penis |
| HP:0003693 | Distal amyotrophy |
