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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000518 | Cataract |
| HP:0000286 | Epicanthus |
| HP:0001161 | Hand polydactyly |
| HP:0000083 | Renal insufficiency |
| HP:0000639 | Nystagmus |
| HP:0001251 | Ataxia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000028 | Cryptorchidism |
| HP:0000612 | Iris coloboma |
| HP:0001249 | Intellectual disability |
