Synonym(s): - Thyroid dyshormonogenesis
Classification (Orphanet): - Rare endocrine disease - Rare genetic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: (no data available)		External references: 6 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DUOX2	Q9NRD8	606759
DUOXA2	Q1HG44	612772
IYD	Q6PHW0	612025
SLC5A5	Q92911	601843
TG	P01266	188450
TPO	P07202	606765

- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia

- Goiter
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism