ichthyosis, hystrix-like, with hearing loss
MONDO:0011245Mondo
Findings
No curated finding names ichthyosis, hystrix-like, with hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Cobblestone-like hyperkeratosisHPOHP:0031288
- 1 of 1 reported patient
- ErythrodermaHPOHP:0001019
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Sparse eyelashesHPOHP:0000653
- 1 of 1 reported patient
- Sparse scalp hairHPOHP:0002209
- 1 of 1 reported patient
- Squamous cell carcinomaHPOHP:0002860
- 1 of 1 reported patient · Young adult onset
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.
- GJB2HGNC:4284
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: ichthyosis, hystrix-like, with hearing loss
- Also called
- HID syndromehystrix-like ichthyosis with deafnessichthyosis, hystrix-like, with deafness