Sjogren-Larsson syndrome
Findings
No curated finding names Sjogren-Larsson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Definition from the Mondo Disease Ontology (MONDO:0010031), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
98 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.
- Flexion contractureHPOHP:0001371
- 6 of 6 reported patients
- IchthyosisHPOHP:0008064
- 9 of 9 reported patients
- 6 of 6 reported patients
- 15 of 15 reported patients · Congenital onset
- 3 of 3 reported patients
- 36 of 36 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Macular crystalsHPOHP:0030501
- 9 of 9 reported patients
- Reduced tissue fatty aldehyde dehydrogenase activityHPOHP:6000720
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
Show the remaining 86
- Generalized ichthyosisHPOHP:0007503
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Spastic diplegiaHPOHP:0001264
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- 10 of 15 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Cerebral dysmyelinationHPOHP:0007266
- Frequent (30% to 79% 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.
- ALDH3A2HGNC:403
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Sjogren-Larsson syndrome
- Also called
- fatty acid alcohol oxidoreductase deficiencySLS