Smith-Lemli-Opitz syndrome
Findings
No curated finding names Smith-Lemli-Opitz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Definition from the Mondo Disease Ontology (MONDO:0010035), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
168 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 2 of 2 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
- 1 of 1 reported patient
Show the remaining 156
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
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.
- DHCR7HGNC:2860
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: Smith-Lemli-Opitz syndrome
- Also called
- 7-dehydrocholesterol reductase deficiencyRSH syndromeRutledge lethal multiple congenital anomaly syndromeSLO syndromeSLOS