hypothyroidism, congenital, nongoitrous, 9
MONDO:0026732Mondo
Findings
No curated finding names hypothyroidism, congenital, nongoitrous, 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal 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.
- Thyroid hypoplasiaHPOHP:0005990
- 9 of 17 reported patients
- Central hypothyroidismHPOHP:0011787
- Decreased circulating free T4 concentrationHPOHP:0033078
- Inappropriately normal thyroid-stimulating hormone levelHPOHP:0033075
- Short statureHPOHP:0004322
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.
- IRS4HGNC:6128
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2018
Where it sits
Other names
1 name
Resolves to: hypothyroidism, congenital, nongoitrous, 9
- Also called
- hypothyroidism, congenital, nongoitrous, 9, X-linked recessive