hypothyroidism, congenital, nongoitrous, 8
MONDO:0026731Mondo
Findings
No curated finding names hypothyroidism, congenital, nongoitrous, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 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.
- Decreased circulating free T4 concentrationHPOHP:0033078
- 7 of 17 reported patients
- Central hypothyroidismHPOHP:0011787
- Inappropriately normal thyroid-stimulating hormone levelHPOHP:0033075
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.
- TBL1XHGNC:11585
- Strong · Ambry Genetics · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021