ichthyosis, congenital, autosomal recessive 13
MONDO:0033092Mondo
Findings
No curated finding names ichthyosis, congenital, autosomal recessive 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- HypergranulosisHPOHP:0025114
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- IchthyosisHPOHP:0008064
- Palmoplantar hyperkeratosisHPOHP:0000972
- Unusual fungal nail infectionHPOHP:0012203
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.
- SDR9C7HGNC:29958
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025