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Laurence-Moon syndrome
Summary
- Synonym
-
- LNMS
- Definition
- A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0000518 | Cataract |
| HP:0100627 | Displacement of the urethral meatus |
| HP:0000286 | Epicanthus |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0001161 | Hand polydactyly |
| HP:0000083 | Renal insufficiency |
| HP:0005978 | Type II diabetes mellitus |
| HP:0000639 | Nystagmus |
| HP:0009896 | Abnormal antitragus morphology |
