Laurence-Moon syndrome
Findings
No curated finding names Laurence-Moon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0009514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Hand polydactylyHPOHP:0001161
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Occasional (5% to 29% of cases)
- BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA6HGNC:16268
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Laurence-Moon syndrome
- Also called
- LMS