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2 OMIM references -
2 associated genes
13 signs/symptoms
COMMON GENES: 1
2 OMIM references -
1 associated gene
8 signs/symptoms
Peripheral resistance to thyroid hormones
Generalized resistance to thyroid hormone

THRA THRB
THRB


COMMON
GENES
THRB



Citations in the biomedical literature:


Peripheral resistance to thyroid hormones
THRA THRB
Generalized resistance to thyroid hormone



Peripheral resistance to thyroid hormones
Generalized resistance to thyroid hormone

Synonym(s):
(no synonyms)

Synonym(s):
- Deafness - thyroid hormone resistance
- Refetoff syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Peripheral resistance to thyroid hormones
Generalized resistance to thyroid hormone

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- 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



Very frequent
- Autosomal recessive inheritance
- Beaked nose
- Delayed bone age
- Pectus carinatum
- Punctate epiphyses / epiphysis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sensorineural deafness / hearing loss
- Thyroid anomalies