ODCs

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2 OMIM references -
6 associated genes
14 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Thyroid hypoplasia

Familial hyperthyroidism due to mutations in TSH receptor

Citations in the biomedical literature:

Thyroid hypoplasia		Familial hyperthyroidism due to mutations in TSH receptor
	Synonym(s): (no synonyms)		Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: variable 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

Thyroid hypoplasia
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - 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 Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)