idiopathic congenital hypothyroidism
MONDO:0019858Mondo
Findings
No curated finding names idiopathic congenital hypothyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.
Definition from the Mondo Disease Ontology (MONDO:0019858), read 2026-09-29. CC BY 4.0.
Features
20 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 T4 concentrationHPOHP:0031507
- Very frequent (80% to 99% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Large posterior fontanelleHPOHP:0004491
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- BradycardiaHPOHP:0001662
- Occasional (5% to 29% of cases)
Reported absent (3)
- Autoimmune antibody positivityHPOHP:0030057
- Increased radioactive iodine uptakeHPOHP:0031220
- Reduced radioactive iodine uptakeHPOHP:0031219
Show the remaining 8
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Facial edemaHPOHP:0000282
- Occasional (5% to 29% of cases)
- HyporeflexiaHPOHP:0001265
- Occasional (5% to 29% of cases)
- HypothermiaHPOHP:0002045
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)