congenital nongoitrous hypothryoidism 2
ORPHA: 95719
Overview
congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital nongoitrous hypothryoidism 2, sourced from HPO and Orphanet clinical annotations.
Growth delayUmbilical herniaConstipationAbdominal distentionThyroid agenesisFatigueExcessive daytime somnolenceThyroid adenomaHashimoto thyroiditisElevated circulating thyroid-stimulating hormone concentrationIncreased circulating free T3Anti-thyroid peroxidase antibody positivityThyroid noduleAnti-thyroglobulin antibody positivityHyperparathyroidismPapillary thyroid carcinomaGraves diseaseMedullary thyroid carcinomaFollicular thyroid carcinomaThyroid hemiagenesisMacroglossiaLarge fontanellesAbnormality of the faceCoarse facial featuresJaundiceHypotoniaGlobal developmental delay
Classification & Codes
Orphanet Code
ORPHA:95719congenital nongoitrous hypothryoidism 2
| Orphanet | ORPHA:95719 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO