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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21589 | 5'-nucleotidase | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0000028 | Cryptorchidism |
| HP:0001510 | Growth delay |
| HP:0000545 | Myopia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000135 | Hypogonadism |
| HP:0000824 | Decreased response to growth hormone stimulation test |
| HP:0008070 | Sparse hair |
| HP:0000580 | Pigmentary retinopathy |
| HP:0001596 | Alopecia |
