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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Peripheral resistance to thyroid hormones
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

THRA CTCF
THRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
THRB
(0.55)
CTCF



Citations in the biomedical literature:


Peripheral resistance to thyroid hormones
THRA THRB
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
CTCF



Peripheral resistance to thyroid hormones
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Peripheral resistance to thyroid hormones

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



Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

(no data available)