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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:0000054 | Micropenis |
| HP:0001155 | Abnormality of the hand |
| HP:0006101 | Finger syndactyly |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0004322 | Short stature |
| HP:0008736 | Hypoplasia of penis |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0009896 | Abnormal antitragus morphology |
| HP:0005978 | Type II diabetes mellitus |
| HP:0100627 | Displacement of the urethral meatus |
