desmosterolosis
Findings
No curated finding names desmosterolosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
Definition from the Mondo Disease Ontology (MONDO:0011217), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
80 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.
- Abnormal circulating cholesterol concentrationHPOHP:0003107
- 2 of 2 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- 2 of 2 reported patients
- Elevated circulating desmosterol concentrationHPOHP:0034937
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
Show the remaining 68
- Absent septum pellucidumHPOHP:0001331
- Very frequent (80% to 99% of cases)
- Bifid uvulaHPOHP:0000193
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- 4 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
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.
- DHCR24HGNC:2859
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021