autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Findings
No curated finding names autosomal dominant keratitis-ichthyosis-hearing loss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of KID syndrome.
Definition from the Mondo Disease Ontology (MONDO:0007850), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 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.
- Absent axillary hairHPOHP:0002221
- 1 of 1 reported patient
- Absent pubic hairHPOHP:0002555
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- HypohidrosisHPOHP:0000966
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 1 of 1 reported patient
- KeratitisHPOHP:0000491
- 1 of 1 reported patient · Childhood onset
- Keratoconjunctivitis siccaHPOHP:0001097
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
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: autosomal dominant keratitis-ichthyosis-hearing loss syndrome
- Also called
- KID syndrome, autosomal dominant