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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 | |
| Q8TBF5 | Phosphatidylinositol-glycan biosynthesis class X protein | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001251 | Ataxia |
| HP:0000028 | Cryptorchidism |
| HP:0004322 | Short stature |
| HP:0000612 | Iris coloboma |
| HP:0008736 | Hypoplasia of penis |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0001249 | Intellectual disability |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000486 | Strabismus |
