hypothyroidism, congenital, nongoitrous, 7
MONDO:0032819Mondo
Findings
No curated finding names hypothyroidism, congenital, nongoitrous, 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 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.
- Abnormal circulating thyroglobulin concentrationHPOHP:0025483
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- Decreased circulating free T3HPOHP:0032210
- Frequent (30% to 79% of cases)
- Decreased circulating T4 concentrationHPOHP:0031507
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- Frequent (30% to 79% of cases)
- Increased circulating prolactin concentrationHPOHP:0000870
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
Reported absent (3)
- Autoimmune antibody positivityHPOHP:0030057
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- GoiterHPOHP:0000853
Show the remaining 9
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- OverweightHPOHP:0025502
- Frequent (30% to 79% of cases)
- Pituitary hypothyroidismHPOHP:0008245
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- Reduced circulating prolactin concentrationHPOHP:0008202
- Frequent (30% to 79% of cases)
- Reduced radioactive iodine uptakeHPOHP:0031219
- Frequent (30% to 79% of cases)
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.
- TRHRHGNC:12299
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: hypothyroidism, congenital, nongoitrous, 7
- Also called
- central hypothyroidism due to TRH receptor deficiencyresistance to thyrotropin-releasing hormone syndromeTRH resistance syndrome