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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:0001513 | Obesity |
| HP:0000248 | Brachycephaly |
| HP:0006101 | Finger syndactyly |
| HP:0001156 | Brachydactyly |
| HP:0000533 | Chorioretinal atrophy |
| HP:0000046 | Small scrotum |
| HP:0001258 | Spastic paraplegia |
| HP:0010442 | Polydactyly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001155 | Abnormality of the hand |
