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6 OMIM references -
6 associated genes
16 signs/symptoms
COMMON GENES: 1
1 associated gene
No signs/symptoms info
Familial thyroid dyshormonogenesis
Genetic transient congenital hypothyroidism

DUOX2 DUOX2
DUOXA2
IYD
SLC5A5
TG
TPO


COMMON
GENES
DUOX2



Citations in the biomedical literature:


Familial thyroid dyshormonogenesis
DUOX2 DUOXA2 IYD SLC5A5 TG TPO

Genetic transient congenital hypothyroidism



Familial thyroid dyshormonogenesis
Genetic transient congenital hypothyroidism

Synonym(s):
- Thyroid dyshormonogenesis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

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

External references:
6 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Familial thyroid dyshormonogenesis

Very frequent
- 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

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



Genetic transient congenital hypothyroidism

(no data available)