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Start free with EleplanPermanent congenital hypothyroidism
ORPHA:226292Category
What it is
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
Key facts
- Prevalence
- 1-5 / 10 000 (at birth, Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, Not applicable
- Classified as
- Category
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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