hyperostosis cranialis interna
MONDO:0007765Mondo
Findings
No curated finding names hyperostosis cranialis interna yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult 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.
- Calvarial hyperostosisHPOHP:0004490
- 13 of 13 reported patients
- Osteosclerosis of the base of the skullHPOHP:0005746
- 13 of 13 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 8 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 10 of 13 reported patients
- Facial palsyHPOHP:0010628
- 9 of 13 reported patients
- HeadacheHPOHP:0002315
- 5 of 10 reported patients · Young adult onset
- AnosmiaHPOHP:0000458
- 6 of 13 reported patients · Young adult onset
- Chiari type I malformationHPOHP:0007099
- 1 of 13 reported patients
- Ocular hypertensionHPOHP:0007906
- 1 of 13 reported patients
- Hyperostosis cranialis internaHPOHP:0005890
- Increased bone mineral densityMondoHP:0011001
- TinnitusHPOHP:0000360
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.
- SLC39A14HGNC:20858
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: hyperostosis cranialis interna
- Also called
- hyperostosis cranalis internahyperostosis cranialis interna (disease)